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Items: 53

1.
Res Dev Disabil. 2017 Nov;70:22-32. doi: 10.1016/j.ridd.2017.08.006. Epub 2017 Sep 1.

Using personal construct methodology to explore relationships with adolescents with Autism Spectrum Disorder.

Author information

1
Canterbury Christ Church University, United Kingdom.
2
Canterbury Christ Church University, United Kingdom. Electronic address: jan.burns@canterbury.ac.uk.
3
Oxleas NHS Trust, United Kingdom.

Abstract

BACKGROUND:

Research shows that adolescents with Autism Spectrum Disorder (ASD) experience difficulties developing friendships, and that loneliness is a significant factor contributing to higher incidence of anxiety and depression within this population.

AIMS:

This study aimed to provide an in-depth analysis of relationships as described by adolescents with ASD, and, from these descriptions, to explore what can be inferred about the development of successful interpersonal relationships for these individuals.

METHODS AND PROCEDURE:

Eight adolescents with ASD participated in semi-structured interviews using established personal construct theory (PCT) techniques.

OUTCOMES AND RESULTS:

PCT was found to be a helpful approach to elicit rich, qualitative data. A thematic analysis identified four themes: relationships as a source of support, perceptions of similarity and difference, valued qualities in self and others, and the development and maintenance of relationships.

CONCLUSIONS AND IMPLICATIONS:

Whilst this exploratory study highlighted some commonality in terms of perceptions of family support and friendships as protective and desirable, participants differed in their ability to establish and maintain peer relationships. Participants valued personal qualities such as intelligence, humour and trust within relationships, and recognised the important role of peers and siblings in the development of social skills, a finding which has implications for the delivery of social skills training and other interventions. The study provides empirical support for the application of personal construct methodologies in ASD research and offers a potentially useful approach to therapeutic intervention.

KEYWORDS:

Asperger’s syndrome; Autism Spectrum Disorder; Friendships; Humour personal construct psychology; Relationships

PMID:
28866247
DOI:
10.1016/j.ridd.2017.08.006
[Indexed for MEDLINE]
Icon for Elsevier Science
2.
Mol Autism. 2017 Jul 25;8:37. doi: 10.1186/s13229-017-0153-9. eCollection 2017.

ADHD-related symptoms and attention profiles in the unaffected siblings of probands with autism spectrum disorder: focus on the subtypes of autism and Asperger's disorder.

Author information

1
Department of Psychiatry, National Taiwan University Hospital and College of Medicine, No.7, Chung-Shan South Road, Taipei, 10002 Taiwan.
2
Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
3
Department of Child and Adolescent Psychiatry, Chang Gung Memorial Hospital, Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung City, Taiwan.
4
Department of Psychiatry, Chang Gung Memorial Hospital- Linkou Medical Center, Chang Gung University College of Medicine, Taoyuan, Taiwan.

Abstract

BACKGROUND:

The presence of attention-deficit/hyperactive disorder (ADHD) symptoms and impaired attention performance are commonly noted in individuals with autism spectrum disorder (ASD). However, little is known about attention performance in their unaffected siblings. This study aimed to investigate the ADHD-related traits and attention performance in unaffected siblings of probands with autism and Asperger syndrome (AS), as well as the clinical correlates of ADHD-related traits.

METHODS:

We assessed the intention, hyperactivity-impulsivity, and oppositional symptoms, and attention profiles of 199 probands with a diagnosis of ASD (122 autism, 77 AS), their unaffected siblings, and 196 typically developing controls (TD) by their parents' reports on the ADHD-related symptoms and the Connors' Continuous Performance Test (CCPT), respectively.

RESULTS:

Compared to TD, unaffected siblings of ASD probands were more hyperactive/impulsive and oppositional, particularly unaffected siblings of AS probands. In CCPT, unaffected siblings of AS have intermediate levels of performance between probands with AS and TD on focused attention and sustained attention but were not statistically different from AS probands or TD in these attention profiles. In contrast, unaffected siblings of autism probands have significantly better CCPT performance when compared to autism probands but not to TD. In addition, stereotyped behaviors predicted ADHD-related traits in both sibling groups, but distinctive patterns of other correlates for ADHD-related traits were found between the two sibling groups.

CONCLUSIONS:

This work suggested that unaffected siblings of AS, but not autism, have more hyperactive/impulsive traits and a trend of pervasive attention deficits assessed by CCPT which might serve as potential endophenotypes for genetic studies in AS.

TRIAL REGISTRATION:

ClinicalTrials.gov, NCT01582256.

KEYWORDS:

Attention; Autism spectrum disorder; Continuous performance test; Endophenotype; Sibling

PMID:
28770037
PMCID:
PMC5526322
DOI:
10.1186/s13229-017-0153-9
[Indexed for MEDLINE]
Free PMC Article
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3.
JAMA Psychiatry. 2016 Jun 1;73(6):622-9. doi: 10.1001/jamapsychiatry.2016.0495.

Risk of Psychiatric and Neurodevelopmental Disorders Among Siblings of Probands With Autism Spectrum Disorders.

Author information

1
Department of Child Psychiatry, University of Turku, Turku University Hospital, Turku, Finland.
2
Department of Psychiatry, Columbia University Medical Center, New York State Psychiatric Institute, New York, New York.
3
Department of Child Psychiatry, University of Turku, Turku University Hospital, Turku, Finland3National Institute for Health and Welfare, Helsinki, Finland.
4
Department of Psychiatry, Columbia University Medical Center, New York State Psychiatric Institute, New York, New York4Department of Epidemiology, Columbia University Mailman School of Public Health, New York, New York.
5
Department of Child Psychiatry, University of Turku, Turku University Hospital, Turku, Finland2Department of Psychiatry, Columbia University Medical Center, New York State Psychiatric Institute, New York, New York.

Abstract

IMPORTANCE:

Previous research has focused on examining the familial clustering of schizophrenia, bipolar disorder, and autism spectrum disorders (ASD). Little is known about the clustering of other psychiatric and neurodevelopmental disorders among siblings of persons with ASD.

OBJECTIVE:

To examine the risk for psychiatric and neurodevelopmental disorders among full siblings of probands with ASD.

DESIGN, SETTING, AND PARTICIPANTS:

The Finnish Prenatal Study of Autism and Autism Spectrum Disorders used a population-based cohort that included children born from January 1, 1987, to December 31, 2005, who received a diagnosis of ASD by December 31, 2007. Each case was individually matched to 4 control participants by sex and date and place of birth. The siblings of the cases and controls were born from January 1, 1977, to December 31, 2005, and received a diagnosis from January 1, 1987, to December 31, 2009. This nested case-control study included 3578 cases with ASD with 6022 full siblings and 11 775 controls with 22 127 siblings from Finnish national registers. Data were analyzed from March 6, 2014, to February 12, 2016.

MAIN OUTCOMES AND MEASURES:

The adjusted risk ratio (RR) for psychiatric and neurodevelopmental disorders among siblings of probands with ASD vs siblings of matched controls. Additional analyses were conducted separately for ASD subgroups, including childhood autism, Asperger syndrome, and pervasive developmental disorders not otherwise specified. Analyses were further stratified by sex and intellectual disability among the probands.

RESULTS:

Among the 3578 cases with ASD (2841 boys [79.4%]) and 11 775 controls (9345 boys [79.4%]), 1319 cases (36.9%) and 2052 controls (17.4%) had at least 1 sibling diagnosed with any psychiatric or neurodevelopmental disorder (adjusted RR, 2.5; 95% CI, 2.3-2.6). The largest associations were observed for childhood-onset disorders (1061 cases [29.7%] vs 1362 controls [11.6%]; adjusted RR, 3.0; 95% CI, 2.8-3.3), including ASD (374 cases [10.5%] vs 125 controls [1.1%]; adjusted RR, 11.8; 95% CI, 9.4-14.7), tic disorders (28 cases [0.8%] vs 24 controls [0.2%]; adjusted RR, 4.3; 95% CI, 2.3-8.2), attention-deficit/hyperactivity disorder (189 cases [5.3%] vs 180 controls [1.5%]; adjusted RR, 3.7; 95% CI, 2.9-4.7), learning and coordination disorders (563 cases [15.7%] vs 697 controls [5.9%]; adjusted RR, 3.2; 95% CI, 2.8-3.6), intellectual disability (104 cases [2.9%] vs 137 controls [1.2%]; adjusted RR, 3.1; 95% CI, 2.3-4.2), conduct and oppositional disorders (180 cases [5.0%] vs 221 controls [1.9%]; adjusted RR, 2.8; 95% CI, 2.2-3.5), and emotional disorders with onset specific to childhood (126 cases [3.5%] vs 157 controls [1.3%]; adjusted RR, 2.6; 95% CI, 1.9-3.4). Autism spectrum disorders were also associated with schizophrenia spectrum disorders, affective disorders, anxiety disorders, and other neurotic and personality disorders among siblings.

CONCLUSIONS AND RELEVANCE:

Psychiatric and neurodevelopmental disorders cluster among siblings of probands with ASD. For etiologic research, these findings provide further evidence that several psychiatric and neurodevelopmental disorders have common risk factors.

[Indexed for MEDLINE]
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4.
Neuroimage Clin. 2015 Aug 7;9:140-52. doi: 10.1016/j.nicl.2015.07.015. eCollection 2015.

Whole-brain functional hypoconnectivity as an endophenotype of autism in adolescents.

Author information

1
Department of Psychiatry, Brain Mapping Unit, University of Cambridge, Cambridge, UK.
2
Department of Psychiatry, Brain Mapping Unit, University of Cambridge, Cambridge, UK ; University of Cambridge, Hughes Hall, Cambridge, UK.
3
Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK.
4
Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK ; Cambridge Lifespan Asperger Syndrome Service (CLASS) Clinic, Cambridgeshire and Peterborough National Health Service Foundation Trust, Cambridge, UK.
5
Department of Psychiatry, Brain Mapping Unit, University of Cambridge, Cambridge, UK ; Department of Experimental Psychology, Behavioural and Clinical Neuroscience Institute, University of Cambridge, Cambridge, UK ; Cambridgeshire & Peterborough National Health Service Foundation Trust, Cambridge, UK.
6
Department of Psychiatry, Brain Mapping Unit, University of Cambridge, Cambridge, UK ; Department of Experimental Psychology, Behavioural and Clinical Neuroscience Institute, University of Cambridge, Cambridge, UK ; Cambridgeshire & Peterborough National Health Service Foundation Trust, Cambridge, UK ; ImmunoPsychiatry, Alternative Discovery & Development, GlaxoSmithKline, Stevenage, UK.
7
Department of Psychiatry, Brain Mapping Unit, University of Cambridge, Cambridge, UK ; Churchill College, University of Cambridge, Cambridge, UK.

Abstract

Endophenotypes are heritable and quantifiable markers that may assist in the identification of the complex genetic underpinnings of psychiatric conditions. Here we examined global hypoconnectivity as an endophenotype of autism spectrum conditions (ASCs). We studied well-matched groups of adolescent males with autism, genetically-related siblings of individuals with autism, and typically-developing control participants. We parcellated the brain into 258 regions and used complex-network analysis to detect a robust hypoconnectivity endophenotype in our participant group. We observed that whole-brain functional connectivity was highest in controls, intermediate in siblings, and lowest in ASC, in task and rest conditions. We identified additional, local endophenotype effects in specific networks including the visual processing and default mode networks. Our analyses are the first to show that whole-brain functional hypoconnectivity is an endophenotype of autism in adolescence, and may thus underlie the heritable similarities seen in adolescents with ASC and their relatives.

PMID:
26413477
PMCID:
PMC4556734
DOI:
10.1016/j.nicl.2015.07.015
[Indexed for MEDLINE]
Free PMC Article
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5.
JAMA. 2015 Apr 21;313(15):1534-40. doi: 10.1001/jama.2015.3077.

Autism occurrence by MMR vaccine status among US children with older siblings with and without autism.

Author information

1
The Lewin Group, Falls Church, Virginia.
2
Optum, Eden Prairie, Minnesota.
3
A. J. Drexel Autism Institute, Drexel University, Philadelphia, Pennsylvania.

Erratum in

Abstract

IMPORTANCE:

Despite research showing no link between the measles-mumps-rubella (MMR) vaccine and autism spectrum disorders (ASD), beliefs that the vaccine causes autism persist, leading to lower vaccination levels. Parents who already have a child with ASD may be especially wary of vaccinations.

OBJECTIVE:

To report ASD occurrence by MMR vaccine status in a large sample of US children who have older siblings with and without ASD.

DESIGN, SETTING, AND PARTICIPANTS:

A retrospective cohort study using an administrative claims database associated with a large commercial health plan. Participants included children continuously enrolled in the health plan from birth to at least 5 years of age during 2001-2012 who also had an older sibling continuously enrolled for at least 6 months between 1997 and 2012.

EXPOSURES:

MMR vaccine receipt (0, 1, 2 doses) between birth and 5 years of age.

MAIN OUTCOMES AND MEASURES:

ASD status defined as 2 claims with a diagnosis code in any position for autistic disorder or other specified pervasive developmental disorder (PDD) including Asperger syndrome, or unspecified PDD (International Classification of Diseases, Ninth Revision, Clinical Modification 299.0x, 299.8x, 299.9x).

RESULTS:

Of 95,727 children with older siblings, 994 (1.04%) were diagnosed with ASD and 1929 (2.01%) had an older sibling with ASD. Of those with older siblings with ASD, 134 (6.9%) had ASD, vs 860 (0.9%) children with unaffected siblings (P < .001). MMR vaccination rates (≥1 dose) were 84% (n = 78,564) at age 2 years and 92% (n = 86,063) at age 5 years for children with unaffected older siblings, vs 73% (n = 1409) at age 2 years and 86% (n = 1660) at age 5 years for children with affected siblings. MMR vaccine receipt was not associated with an increased risk of ASD at any age. For children with older siblings with ASD, at age 2, the adjusted relative risk (RR) of ASD for 1 dose of MMR vaccine vs no vaccine was 0.76 (95% CI, 0.49-1.18; P = .22), and at age 5, the RR of ASD for 2 doses compared with no vaccine was 0.56 (95% CI, 0.31-1.01; P = .052). For children whose older siblings did not have ASD, at age 2, the adjusted RR of ASD for 1 dose was 0.91 (95% CI, 0.67-1.20; P = .50) and at age 5, the RR of ASD for 2 doses was 1.12 (95% CI, 0.78-1.59; P = .55).

CONCLUSIONS AND RELEVANCE:

In this large sample of privately insured children with older siblings, receipt of the MMR vaccine was not associated with increased risk of ASD, regardless of whether older siblings had ASD. These findings indicate no harmful association between MMR vaccine receipt and ASD even among children already at higher risk for ASD.

PMID:
25898051
DOI:
10.1001/jama.2015.3077
[Indexed for MEDLINE]
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6.
Dev Neurorehabil. 2016;19(2):103-10. doi: 10.3109/17518423.2014.915244. Epub 2014 May 19.

Piloting the use of experience sampling method to investigate the everyday social experiences of children with Asperger syndrome/high functioning autism.

Author information

1
a School of Occupational Therapy and Social Work, Curtin University , Perth , Western Australia , Australia .
2
b Discipline of Occupational Therapy, James Cook University , Townsville City , Queensland , Australia .
3
c Discipline of Occupational Therapy, Faculty of Health Sciences, University of Sydney , Sydney , Australia , and.
4
d Rehabilitation Medicine, Faculty of Health Sciences, Department of Medicine and Health Sciences (IMH) , Linköping University & Pain and Rehabilitation Centre , Linköping , Sweden.

Abstract

OBJECTIVE:

This pilot study explored the nature and quality of social experiences of children with Asperger Syndrome/High Functioning Autism (AS/HFA) through experience sampling method (ESM) while participating in everyday activities.

METHODS:

ESM was used to identify the contexts and content of daily life experiences. Six children with AS/HFA (aged 8-12) wore an iPod Touch on seven consecutive days, while being signalled to complete a short survey.

RESULTS:

Participants were in the company of others 88.3% of their waking time, spent 69.0% of their time with family and 3.8% with friends, but only conversed with others 26.8% of the time. Participants had more positive experiences and emotions when they were with friends compared with other company. Participating in leisure activities was associated with enjoyment, interest in the occasion, and having positive emotions.

CONCLUSIONS:

ESM was found to be helpful in identifying the nature and quality of social experiences of children with AS/HFA from their perspective.

KEYWORDS:

Activities of daily living; autism spectrum disorder; child experience; experience sampling method; pilot study; social inclusion

PMID:
24840290
DOI:
10.3109/17518423.2014.915244
[Indexed for MEDLINE]
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7.
J Autism Dev Disord. 2013 Sep;43(9):2238-9. doi: 10.1007/s10803-013-1781-3.

Asperger's in the Holmes family.

Abstract

I show that Mycroft Holmes (Sherlock Holmes' brother) is a formally described case of Asperger's syndrome a half century before Asperger's description of the syndrome. Further, given the genetic similarity and links between the brothers stated by Sherlock, this also cinches the same diagnosis for Sherlock.

PMID:
23381486
DOI:
10.1007/s10803-013-1781-3
[Indexed for MEDLINE]
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8.
J Autism Dev Disord. 2013 Aug;43(8):1758-72. doi: 10.1007/s10803-012-1720-8.

Psychological correlates of handedness and corpus callosum asymmetry in autism: the left hemisphere dysfunction theory revisited.

Author information

1
Department of Psychiatry, Autism Research Centre, University of Cambridge, Cambridge, UK. df312@medschl.cam.ac.uk

Abstract

Rightward cerebral lateralization has been suggested to be involved in the neuropathology of autism spectrum conditions. We investigated functional and neuroanatomical asymmetry, in terms of handedness and corpus callosum measurements in male adolescents with autism, their unaffected siblings and controls, and their associations with executive dysfunction and symptom severity. Adolescents with autism did not differ from controls in functional asymmetry, but neuroanatomically showed the expected pattern of stronger rightward lateralization in the posterior and anterior midbody based on their hand-preference. Measures of symptom severity were related to rightward asymmetry in three subregions (splenium, posterior midbody and rostral body). We found the opposite pattern for the isthmus and rostrum with better cognitive and less severe clinical scores associated with rightward lateralization.

PMID:
23179344
PMCID:
PMC3708282
DOI:
10.1007/s10803-012-1720-8
[Indexed for MEDLINE]
Free PMC Article
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9.
Seishin Shinkeigaku Zasshi. 2012;114(8):921-7.

[Development and neural basis of social behavior].

[Article in Japanese]

Author information

1
Tokyo University of Agriculture and Technology.

Abstract

We have developed a multi variate analysis of social communication behavior which allows for discriminating the emotional state of an agent interacting with other agents (Bouquet method). Domestic chick or common marmoset was reared under socially isolated conditions, later tested for its development of communication behavior with peers by Bouquet, and compared with that of animals reared under grouping conditions. We found the existence of high sensitive period for social interaction, given less experience, developing less affiliated behavior. From chick model, a couple of neuronal difference was observed between two groups, amygdale core central cell size, MRI volumetric measure in mesolimbic area, and gene expression patter including brain type tryptophan hydroxylase in nucleus accumbens. The isolated chick behavior changed better to be socially affiliated by taking SSRI/SNRI or Ubiquinol (the reduced form of CoQ10) together with social interaction experience after the sensitive period. Finally, we could discriminate the behavior of Asperger syndrome children (n = 7) from that of the typically developed siblings (n = 6) during the clinical interview by applying Bouquet method.

PMID:
23012854
[Indexed for MEDLINE]
10.
J Genet Couns. 2012 Dec;21(6):789-90. doi: 10.1007/s10897-012-9522-x. Epub 2012 Aug 15.

Full-spectrum parenting.

Author information

1
lou@louschuler.com

Abstract

A parent of two teenagers diagnosed with Asperger's Syndrome describes daily life with them and their neurotypical sibling.

PMID:
22892897
DOI:
10.1007/s10897-012-9522-x
[Indexed for MEDLINE]
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11.
Brain Dev. 2013 Feb;35(2):155-7. doi: 10.1016/j.braindev.2012.07.012. Epub 2012 Aug 9.

Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy.

Author information

1
Department of Pediatrics, Shiga Medical Center for Children, 5-7-30 Moriyama, Shiga, Japan. miyajima@terra.dti.ne.jp

Abstract

In 1999, Hirose et al. reported a Japanese family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) associated with a neuronal nicotinic acetylcholine receptor α4 subunit mutation (S252L). We followed the siblings of this family, and found that the elder brother had Asperger's disorder without mental retardation (MR) and the younger brother had autistic disorder with profound MR. The clinical epileptic features of the siblings were very similar, and both had deficits in socialization, but their cognitive development differed markedly. It thus seems that epilepsy is the direct phenotype of the S252L mutation, whereas other various factors modulate the cognitive and social development. No patients with ADNFLE have previously been reported to have autism spectrum disorder or profound MR.

PMID:
22883468
DOI:
10.1016/j.braindev.2012.07.012
[Indexed for MEDLINE]
Icon for Elsevier Science
12.
J Autism Dev Disord. 2013 Apr;43(4):973-7. doi: 10.1007/s10803-012-1620-y.

Brief report: Asperger's syndrome and sibling birth order.

Author information

1
Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.

Abstract

Prior investigations suggest that birth order position may be associated with the risk for developing a pervasive developmental disorder. This retrospective chart review examined the birth order status of 29 psychiatrically-referred patients with Asperger's Syndrome (AS). Eighty-six percent of the subjects were first born. The finding was statistically significant when compared to an expected random distribution of AS subjects χ(2) (1, N = 29) = 9.18, p < 0.01. The reasons for such an association are unclear though birth stoppage, obstetric complications, and immunological mechanisms may play a role.

PMID:
22872214
DOI:
10.1007/s10803-012-1620-y
[Indexed for MEDLINE]
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13.
Arch Gen Psychiatry. 2012 Nov;69(11):1099-1103.

Family history of schizophrenia and bipolar disorder as risk factors for autism.

Author information

1
Department of Genetics, University of North Carolina at Chapel Hill, USA. pfsulliv@med.unc.edu

Abstract

CONTEXT:

The clinical and etiologic relation between autism spectrum disorders (ASDs) and schizophrenia is unclear. The degree to which these disorders share a basis in etiology has important implications for clinicians, researchers, and those affected by the disorders.

OBJECTIVE:

To determine whether a family history of schizophrenia and/or bipolar disorder is a risk factor for ASD.

DESIGN, SETTING, AND PARTICIPANTS:

We conducted a case-control evaluation of histories of schizophrenia or bipolar disorder in first-degree relatives of probands in 3 samples—population registers in Sweden, Stockholm County (in Sweden), and Israel. Probands met criteria for ASD, and affection status of parents and siblings for schizophrenia and bipolar disorder were established.

RESULTS:

The presence of schizophrenia in parents was associated with an increased risk for ASD in a Swedish national cohort (odds ratio [OR], 2.9; 95% CI, 2.5-3.4) and a Stockholm County cohort (OR, 2.9; 95% CI, 2.0-4.1). Similarly, schizophrenia in a sibling was associated with an increased risk for ASD in a Swedish national cohort (OR, 2.6; 95% CI, 2.0-3.2) and an Israeli conscription cohort (OR, 12.1; 95% CI, 4.5-32.0). Bipolar disorder showed a similar pattern of associations but of lesser magnitude.

CONCLUSIONS:

Findings from these 3 registers along with consistent findings from a similar study in Denmark suggest that ASD, schizophrenia, and bipolar disorder share common etiologic factors.

[Indexed for MEDLINE]
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14.
J Child Psychol Psychiatry. 2012 Sep;53(9):954-63. doi: 10.1111/j.1469-7610.2012.02556.x. Epub 2012 Apr 27.

The co-occurrence of autism spectrum disorder and attention-deficit/hyperactivity disorder symptoms in parents of children with ASD or ASD with ADHD.

Author information

1
Karakter, Child and Adolescent Psychiatry University Centre, Nijmegen, The Netherlands. d.vansteijn@karakter.com

Abstract

BACKGROUND:

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) share about 50-72% of their genetic factors, which is the most likely explanation for their frequent co-occurrence within the same patient or family. An additional or alternative explanation for the co-occurrence may be (cross-)assortative mating, e.g., the tendency to choose a partner that is similar or dissimilar to oneself. Another issue is that of parent-of-origin effect which refers to the possibility of parents differing in the relative quantity of risk factors they transmit to the offspring. The current study sets out to examine (cross-)assortative mating and (cross-)parent-of-origin effects of ASD and ADHD in parents of children with either ASD or ASD with ADHD diagnosis.

METHODS:

In total, 121 families were recruited in an ongoing autism-ADHD family genetics project. Participating families consisted of parents and at least one child aged between 2 and 20 years, with either autistic disorder, Asperger disorder or PDD-NOS, and one or more biological siblings. All children and parents were carefully screened for the presence of ASD and ADHD.

RESULTS:

No correlations were found between maternal and paternal ASD and ADHD symptoms. Parental ASD and ADHD symptoms were predictive for similar symptoms in the offspring, but with maternal hyperactive-impulsive symptoms, but not paternal symptoms, predicting similar symptoms in daughters. ASD pathology in the parents was not predictive for ADHD pathology in the offspring, but mother's ADHD pathology was predictive for offspring ASD pathology even when corrected for maternal ASD pathology.

CONCLUSIONS:

Cross-assortative mating for ASD and ADHD does not form an explanation for the frequent co-occurrence of these disorders within families. Given that parental ADHD is predictive of offspring' ASD but not vice versa, risk factors underlying ASD may overlap to a larger degree with risk factors underlying ADHD than vice versa. However, future research is needed to clarify this issue.

[Indexed for MEDLINE]
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15.
Chronic Dis Inj Can. 2012 Mar;32(2):90-100.

Correlates of age at diagnosis of autism spectrum disorders in six Canadian regions.

Author information

1
Department of Community Health and Epidemiology, Queen's University, Kingston, Ontario, Canada.

Abstract

INTRODUCTION:

Early identification of autism spectrum disorders (ASD) is important, since earlier exposure to behavioural intervention programs may result in better outcomes for the child. Moreover, it allows families timely access to other treatments and supports.

METHODS:

Using generalized linear modeling, we examined the association between child and family characteristics and the age at which 2180 children were diagnosed with ASD between 1997 and 2005 in six Canadian regions.

RESULTS:

A diagnosis of pervasive developmental disorder-not otherwise specified (PDD-NOS) or Asperger syndrome, rural residence, diagnosis in more recent years, and foreign birthplace were associated with a later age at diagnosis. Children who are visible minorities or who have siblings with ASD were more likely to be diagnosed earlier. Collectively, these factors explained little of the variation in age at diagnosis, however.

CONCLUSION:

While it is encouraging that ethnocultural identity, neighbourhood income, urban or rural residence, and sex of the child were not major contributors to disparities in the age when children were identified with ASD, more work is needed to determine what does account for the differences observed. Regional variations in the impact of several factors suggest that aggregating data may not be an optimal strategy if the findings are meant to inform policy and clinical practice at the local level.

PMID:
22414306
[Indexed for MEDLINE]
Free full text
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16.
Disabil Rehabil. 2012;34(1):69-75. doi: 10.3109/09638288.2011.587087. Epub 2011 Aug 30.

Group intervention for siblings of children with disabilities: a pilot study in a clinical setting.

Author information

1
Habilitation and Assistive Technology Services, Uppsala County Council, Sweden.

Abstract

PURPOSE:

To study the effectiveness of a group intervention in a clinical setting designed to increase knowledge of disability and improve sibling relationship among siblings of children with disabilities.

METHOD:

A self-selected sample of 54 younger and older siblings with typical development (ages 8-12 years) of children with attention deficit hyperactivity disorder (ADHD) (9), Asperger syndrome (7), autistic disorder (13), physical disability (8) and intellectual disability (17) participated in collateral sibling groups. The Sibling Knowledge Interview (SKI) and Sibling Relationship Questionnaire (SRQ) were administered pre- and post-intervention.

RESULTS:

SKI scores increased (p < 0.001) from pre- to post-intervention when merged diagnostic groups were compared. Comparisons of SRQ pre- and post-intervention scores across diagnostic sibling groups showed significantly different (p < 0.05) score patterns.

CONCLUSIONS:

The results were encouraging and contribute to further development of interventions meeting the needs of siblings of children with disabilities. In view of the limited empirical research on group interventions for siblings of children with disabilities future work is needed to investigate the effectiveness of such interventions. Particular attention should be given to siblings of children with autism and siblings of children with intellectual disability.

PMID:
21877903
DOI:
10.3109/09638288.2011.587087
[Indexed for MEDLINE]
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17.
Autism Res. 2010 Dec;3(6):345-9. doi: 10.1002/aur.161. Epub 2010 Dec 8.

Face processing abilities in relatives of individuals with ASD.

Author information

1
Department of Psychiatry, University of Oxford, Warneford Hospital, Headington, Oxford, United Kingdom.

Abstract

Individuals with an autism spectrum disorder (ASD) show difficulties identifying familiar faces, recognizing emotional expressions and judging eye-gaze direction. Recent research suggests that relatives of individuals with AS also show impairments in some aspects of face processing but no study has comprehensively assessed the nature and extent of face-processing difficulties in a group of relatives. This study compared the performance of 22 parents/adult siblings of individuals with ASD ("relatives" group), 26 adults with ASD, and 26 typically developing adults on tasks of face discrimination, facial expression recognition and judging eye-gaze direction. Relatives of individuals with ASD were less able to discriminate subtle differences between faces than typically developing adults, but were more sensitive to such differences than adults with ASD. Furthermore, relatives were significantly worse at identifying expressions of fear and disgust than typically developing adults and failed to show the typical sensitivity to direct compared with averted eye-gaze direction--a strikingly similar pattern to that observed in adults with ASD. These findings show that atypical patterns of face processing are found in some relatives of individuals with ASD and suggest that these difficulties may represent a cognitive endophenotype.

PMID:
21182211
DOI:
10.1002/aur.161
[Indexed for MEDLINE]
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18.
J Autism Dev Disord. 2011 Jan;41(1):73-81. doi: 10.1007/s10803-010-1023-x.

The inclusion of siblings in social skills training groups for boys with Asperger syndrome.

Author information

1
Division of Psychology, RMIT University, Melbourne, Australia.

Abstract

This pilot investigation evaluated the effectiveness of siblings as generalisation agents in an 8-week social skills training (SST) program designed for boys with Asperger syndrome (AS). Twenty-one boys aged 8-12 participated in a SST group alone, with a sibling, or remained in a wait-list control group. After training, participants' identification of non-verbal social cues significantly improved and was maintained at 3-month follow-up, irrespective of sibling involvement. Similar trends existed for participants' ability to accurately interpret emotions relative to controls. Improvements did not extend to parent and teacher ratings on standardised social skills measures, suggesting poor generalisation, or questionable sensitivity of measures to taught skills. Results suggest some promise in improving social skills training for children with AS.

PMID:
20461452
DOI:
10.1007/s10803-010-1023-x
[Indexed for MEDLINE]
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19.
Acta Paediatr. 2010 Sep;99(9):1425-8. doi: 10.1111/j.1651-2227.2010.01835.x.

Brief report: validity of Finnish registry-based diagnoses of autism with the ADI-R.

Author information

1
Department of Child Psychiatry, University of Turku, Turku, Finland. katja.lampi@utu.fi

Abstract

AIMS:

The aim of the study was to explore the validity of registry-based diagnoses of autism in Finland using the Autism Diagnostic Interview - Revised (ADI-R). This study was designed for the Finnish Prenatal Study of Autism and Autism Spectrum Disorders (FIPS-A), an ongoing research project where registry-based diagnoses will be used for epidemiological studies.

METHODS:

In this small pilot study, a clinical sample of 95 subjects diagnosed with childhood autism or pervasive developmental disorder/pervasive developmental disorder - not otherwise specified (PDD/PDD-NOS) or Asperger's syndrome according to the Finnish Hospital Discharge Register (FHDR) was gathered nationwide. A small control group consisting of siblings without any registered diagnoses of those being examined was also included in the study. Diagnoses were further re-evaluated by interviewing parents with the ADI-R.

RESULTS:

The mean scores of autistic subjects clearly exceeded cut-off limits for autism on all three ADI-R domains and 96% of the subjects with registered diagnosis of childhood autism fulfilled the criteria based on the instrument as well.

CONCLUSION:

These results suggest that the validity of Finnish registry-based diagnoses of childhood autism can be considered good. Our findings lay important groundwork for further population- based studies of the aetiology of autism.

[Indexed for MEDLINE]
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20.
Clin Genet. 2010 Apr;77(4):389-94. doi: 10.1111/j.1399-0004.2009.01318.x. Epub 2009 Dec 10.

DISC1 duplication in two brothers with autism and mild mental retardation.

Author information

1
Center for Human Genetics, Clinical Genetics, University of Leuven, Leuven, Belgium.

Abstract

We describe the identification and delineation of an inherited 2.07 Mb microduplication in 1q42.2 in two brothers with autism and mild mental retardation. Since this duplication was not present in 1577 Belgian persons, we consider this as an extremely rare variant which has the potential to provide further insight into the genetics of autism. The duplication contains seven genes including the DISC1 gene, an interesting candidate gene that has been associated to schizophrenia, bipolar disorder, autism and Asperger syndrome. In this report we describe additional analyses undertaken to investigate the causal relationship of the duplication to the autism phenotype. We conclude that the 1q42.2 microduplication probably confers susceptibility to autism in the current family. This study is a typical illustration of the difficult interpretation of causality of a very rare variant in neuropsychiatric disease and the challenge of genetic counselling in a particular family.

[Indexed for MEDLINE]
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21.
J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Author information

1
Provincial Medical Genetics Program, Health Sciences Center, 300 Prince Philip Drive, St. John's Newfoundland, A1B 3V6, Canada. bfernandez@nl.rogers.com

Abstract

BACKGROUND:

Recurrent microdeletions and microduplications of approximately 555 kb at 16p11.2 confer susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients. No physical or behavioural features have been identified that distinguish these individuals as having a distinct ASD subtype, but clinical data are limited.

METHODS:

We report five autistic probands identified by microarray analysis with copy number variation (CNV) of 16p11.2 (three deletions, two duplications). Each patient was assessed for ASD and dysmorphic features. We also describe a deletion positive 26-month-old female who has developmental delay (DD) and autistic features.

RESULTS:

Proband 1 (female with ASD, de novo deletion) is not dysmorphic. Proband 2 (male with autism, de novo deletion) and proband 3 and his brother (males with autism, inherited deletions) are dysmorphic, but the two probands do not resemble one another. The mother of proband 3 has mild mental retardation (MR), minor dysmorphism and meets the criteria for ASD. Proband 4 (dysmorphic autistic male, de novo duplication) had a congenital diaphragmatic hernia. Proband 5 (non-dysmorphic ASD female with a duplication) has two apparently healthy duplication positive relatives. Probands 1 and 2 have deletion negative siblings with ASD and Asperger syndrome, respectively. Proband 6 (a female with DD and an inherited duplication) is dysmorphic, but has oligohydramnios sequence.

CONCLUSIONS:

The phenotypic spectrum associated with CNV at 16p11.2 includes ASD, MR/DD and/or possibly other primary psychiatric disorders. Compared with the microduplications, the reciprocal microdeletions are more likely to be penetrant and to be associated with non-specific major or minor dysmorphism. There are deletion positive ASD probands with a less severe phenotype than deletion negative ASD siblings underscoring the significant phenotypic heterogeneity.

PMID:
19755429
DOI:
10.1136/jmg.2009.069369
[Indexed for MEDLINE]
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22.
Hum Genet. 2009 Oct;126(4):589-602. doi: 10.1007/s00439-009-0706-x. Epub 2009 Jun 26.

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

Author information

1
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm R809, Houston, TX 77030, USA.

Abstract

We report four new patients with a submicroscopic deletion in 15q24 manifesting developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, and characteristic facial features. These clinical features are shared with six recently reported patients with a 15q24 microdeletion, supporting the notion that this is a recognizable syndrome. We describe a case of an ~2.6 Mb microduplication involving a portion of the minimal deletion critical region in a 15-year-old male with short stature, mild mental retardation, attention deficit hyperactivity disorder, Asperger syndrome, decreased joint mobility, digital abnormalities, and characteristic facial features. Some of these features are shared with a recently reported case with a 15q24 microduplication involving the minimal deletion critical region. We also report two siblings and their mother with duplication adjacent and distal to this region exhibiting mild developmental delay, hypotonia, tapering fingers, characteristic facial features, and prominent ears. The deletion and duplication breakpoints were mapped by array comparative genomic hybridization and the genomic structure in 15q24 was analyzed further. Surprisingly, in addition to the previously recognized three low-copy repeat clusters (BP1, BP2, and BP3), we identified two other paralogous low-copy repeat clusters that likely mediated the formation of alternative sized 15q24 genomic rearrangements via non-allelic homologous recombination.

PMID:
19557438
PMCID:
PMC3669685
DOI:
10.1007/s00439-009-0706-x
[Indexed for MEDLINE]
Free PMC Article
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23.
Dev Med Child Neurol. 2010 Mar;52(3):289-92. doi: 10.1111/j.1469-8749.2009.03368.x. Epub 2009 Jun 22.

Sibling sex ratio of individuals diagnosed with autism spectrum disorder as children.

Author information

1
Department of Child and Adolescent Psychiatry, Bispebjerg University Hospital, Copenhagen, Denmark. sem01@bbh.hosp.dk

Abstract

AIM:

To study the sex ratio (proportion of males) in siblings of individuals diagnosed with autism spectrum disorders (ASDs) as children.

METHOD:

In the current study, we extended previous studies dealing with the androgen theory of autism and examined sex ratios in the siblings of 326 individuals with ASD (245 males, 81 females) who had been consecutively assessed at two Danish university clinics of child psychiatry during the 25-year period from 1960 to 1985.

RESULTS:

Among the 513 siblings, 300 were males and 213 females. This yields a sex ratio of 0.585, which is significantly higher than the Danish live-birth sex ratio over the same period (0.514, p=0.001). The sibling sex ratio was not associated with the IQ in the autistic probands.

INTERPRETATION:

Our findings suggest a potential indirect confirmation of the androgen theory of autism.

[Indexed for MEDLINE]
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24.
Am J Epidemiol. 2009 Jun 1;169(11):1296-303. doi: 10.1093/aje/kwp059. Epub 2009 Apr 16.

Birth defects in children with autism spectrum disorders: a population-based, nested case-control study.

Author information

1
Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia, Australia.

Abstract

The causes of autism spectrum disorders (ASDs) are unknown, although genetic and environmental influences have been implicated. Previous studies have suggested an association with birth defects, but most investigators have not addressed associations with specific diagnostic categories of ASD. In this study, the authors investigated the associations between birth defects and autism, Asperger syndrome, and pervasive developmental disorder not otherwise specified. Using Western Australian population-based linked data, the authors compared all children with ASD born in Western Australia during 1980-1995 (n = 465) with their siblings (n = 481) and population controls (n = 1,313) in a nested case-control study. The prevalence of birth defects was significantly higher in ASD cases than in population controls; this difference remained significant after adjustment for confounding factors. Odds ratios for birth defects were similar for autism (odds ratio (OR) = 2.0, 95% confidence interval (CI): 1.3, 3.0) and pervasive developmental disorder not otherwise specified (OR = 2.2, 95% CI: 1.1, 4.3) but not for Asperger syndrome (OR = 0.5, 95% CI: 0.1, 1.9). Birth defects in case siblings were not significantly different from those in cases and population controls. The association between birth defects and ASD may be due to underlying genetic and/or environmental factors common to both ASD and birth defects, or birth defects may predispose a child to ASD.

PMID:
19372213
DOI:
10.1093/aje/kwp059
[Indexed for MEDLINE]
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25.
J Autism Dev Disord. 2009 Jun;39(6):856-64. doi: 10.1007/s10803-009-0694-7. Epub 2009 Feb 4.

Multi-informant ratings of psychiatric symptom severity in children with autism spectrum disorders: the importance of environmental context.

Author information

1
Department of Health Psychology and Thompson Center for Autism and Neurodevelopmental Disorders, University of Missouri, 300 Portland Street, Columbia, MO 65211, USA. kannest@health.missouri.edu

Abstract

The present study examines co-occurring psychiatric syndromes in a well-characterized sample of youths with autism spectrum disorders (ASD; n = 177) and their siblings (n = 148), reported independently by parents and teachers. In ASD, parents reported substantial comorbidity with affective (26%), anxiety (25%), attentional (25%), conduct (16%), oppositional (15%), and somatic problems (6%). Teachers reported a much lower prevalence. Autistic severity scores for children with ASD exhibited moderate correlations with general psychopathology within- but not across-informants, whereas, sibling correlations were significant both within- and across-informants. Results support the role of environmental context in psychiatric symptom expression in children affected by autism and suggest that informant discrepancies may more provide critical cues for these children via specific environmental modifications.

PMID:
19191016
PMCID:
PMC2878186
DOI:
10.1007/s10803-009-0694-7
[Indexed for MEDLINE]
Free PMC Article
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26.
Autism. 2009 Jan;13(1):59-80. doi: 10.1177/1362361308097119.

Siblings of individuals with an autism spectrum disorder: sibling relationships and wellbeing in adolescence and adulthood.

Author information

1
Department of Occupational Therapy, Boston University, Boston, MA 02215, USA. gorsmond@bu.edu

Abstract

We investigated sibling relationships and wellbeing in adolescents and adults with a sibling with an autism spectrum disorder (ASD). Adolescents engaged in more shared activities than did adults. Adolescents reported greater social support, greater use of emotion-focused coping strategies, and less use of problem-focused coping than adults. In adulthood, females with a sister with ASD reported the most positive affect in the sibling relationship and men with a sister with ASD the least. Adolescents engaged in more shared activities and reported more positive affect in their sibling relationship when their sibling with ASD had fewer behavior problems; greater use of problem-focused coping buffered the negative effects of behavior problems on sibling engagement. For adults, more shared activities were observed when the sibling with ASD was younger in age and had fewer behavior problems; greater positive affect in sibling relationships was predicted by greater parental support.

PMID:
19176577
PMCID:
PMC2651641
DOI:
10.1177/1362361308097119
[Indexed for MEDLINE]
Free PMC Article
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27.
Phys Occup Ther Pediatr. 2007;27(4):7-22.

Cognitive Orientation for daily Occupational Performance approach for children with Asperger's Syndrome:a case report.

Author information

1
Division of Occupational Therapy, School of Health & Rehabilitation Sciences, The University of Queensland Brisbane, Queensland, Australia. s.rodger@uq.edu.au

Abstract

Cognitive Orientation for daily Occupational Performance (CO-OP) is a client-centred, cognitive approach to acquisition of occupational skills. Children are taught a global problem solving framework and are guided to discover Domain Specific Strategies to enable mastery of their child chosen skills. A major focus of CO-OP is on the generalization and transfer of learned strategies and skills to everyday life. Two case studies are reported that provide preliminary evidence of the effects of CO-OP on the everyday lives of two siblings (aged 9 years and 11 years) with Asperger's Syndrome. The data were drawn from the detailed diary kept by the children's mother from the start of intervention and for two months after intervention ceased. Thematic analysis of the diary entries revealed multiple detailed accounts of the children's spontaneous use of the global problem solving framework to assist with acquisition of new motor skills, to overcome organizational and social-emotional difficulties, as well as numerous examples of generalization and transfer of skills. This case report provides preliminary support for CO-OP as an intervention for children with Asperger's Syndrome that supports both skill acquisition and generalization and transfer of skills and strategies.

PMID:
18032147
[Indexed for MEDLINE]
28.

Siblings of individuals with autism spectrum disorders across the life course.

Author information

1
Department of Occupational Therapy and Rehabilitation Counseling, Boston University, Boston, MA 02215, USA. gorsmond@bu.edu <gorsmond@bu.edu>

Abstract

In this article, we review the literature on siblings of individuals with autism spectrum disorders (ASD) from a lifespan developmental perspective, from infancy through adulthood, focusing on the sibling relationship and sibling well-being. We situate this review within the larger body of research on siblings of individuals with developmental disabilities (DD) across the lifespan. We then consider the genetic aspects of ASDs and their implications for siblings. We conclude that there is an evidence of atypical social and communication development in some siblings of children with an ASD during infancy. During childhood and adolescence, siblings describe both positive and negative aspects of their sibling relationship and there is some evidence that siblings of children with an ASD may be at heightened risk for social and behavioral adjustment problems. The limited research on adulthood suggests that lack of closeness in the sibling relationship and social and emotional difficulties may continue. We encourage more attention focused on developmental issues, specifically with respect to samples in narrower age groups and in longitudinal research. Finally, we note the variability in sibling outcomes, and suggest further examination of potential moderating and mediating factors, including genetic predispositions.

PMID:
17979200
DOI:
10.1002/mrdd.20171
[Indexed for MEDLINE]
29.
Encephale. 2007 May-Jun;33(3 Pt 1):285-92.

[Investigation of the behavioural phenotype of parents of autistic children through the new FAQ self-report].

[Article in French]

Author information

1
AP-HP, Hôpital Necker-Enfants Malades, Service de Psychiatrie de l'Enfant et de l'Adolescent, 149, rue de Sèvres, 75015 Paris.

Abstract

INTRODUCTION:

Autism is characterized by impairments in communication and socialization and by the presence of circumscribed and stereotyped interest. Previous studies have shown that genetic mechanisms may enhance the vulnerability to autism. These mechanisms are complex and may involve the combination of several genes, in interaction with the environment. The genetic mechanism involved in the vulnerability to autism may also concern other disorders and some features, with enhanced prevalence in relatives of autistic patients. It has been shown, for example, that the frequency of language disorders or serial difficulties is increased in the siblings of autistic patients. Characterization and taking into account the presence of such phenotypic traits in the relations may help in understanding the results of genetic studies, in particular association studies in sibling pairs or trios.

OBJECTIVE:

In this study, we used a new self-report in order to identify endophenotype traits in socialization, communication, rigidity and imagination in parents of autistic children. This self-report is the French adaptation of the previous self-report created by Baron-Cohen et al., aimed at the identification of Asperger profiles in a population of students studying science.

METHODOLOGY:

Ten autistic children and their parents from a clinical setting were asked to participate in the study. Autistic children were characterized using the ADI-R and various psychometric tests, according to the possibilities of the child (PEP-R, WPPSI-R, WISC3). Twenty parents of normal children were recruited from three different professional settings. There were no differences between the two groups of parents in terms of age or social status. Parents of both groups were asked to fill in the FAQ self-report.

RESULTS:

We performed a post-hoc analysis comparing the scores of the parents in the two groups. We found a main group, but no sex effect [F (1,37)=5.46; p<0.05]. Scores of autistic parents were higher in all domains compared to the control parents (p<0.05). However, the score on the socialization subscale was the only one that significantly differed from the scores on the imagination, language and rigidity subscales [F (3,111)=20.75, p<0.001].

CONCLUSION:

Our results show significant differences between the two groups of parents in the socialization domain. This is of interest both for the interpretation of the presence of allelic variants in the genetic association studies, and for the understanding of the interplay between genotype and phenotype in the development of the autistic disorder.

PMID:
17675925
[Indexed for MEDLINE]
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30.
Neuromuscul Disord. 2007 Aug;17(8):651-4. Epub 2007 Jun 27.

Mitochondrial myopathy associated with a novel mutation in mtDNA.

Author information

1
Dept. of Neurology, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University Medical Center, 630 W. 168th Street, New York, NY 10032, USA.

Abstract

A 6-year-old boy had progressive muscle weakness since age 4 and emotional problems diagnosed as Asperger syndrome. His mother and two older siblings are in good health and there is no family history of neuromuscular disorders. Muscle biopsy showed ragged-red and cytochrome coxidase (COX)-negative fibers. Respiratory chain activities were reduced for all enzymes containing mtDNA-encoded subunits, especially COX. Sequence analysis of the 22 tRNA genes revealed a novel G10406A base substitution, which was heteroplasmic in multiple tissues of the patient by RFLP analysis (muscle, 96%; urinary sediment, 94%; cheek mucosa, 36%; blood, 29%). The mutation was not detected in any accessible tissues from his mother or siblings. It appears that this mutation arose de novo in the proband, probably early in embryogenesis.

PMID:
17588757
PMCID:
PMC2699619
DOI:
10.1016/j.nmd.2007.04.005
[Indexed for MEDLINE]
Free PMC Article
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31.

Decomposing the autism phenotype into familial dimensions.

Author information

1
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada. szatmar@mcmaster.ca

Abstract

The objective of this article is to decompose the level of functioning phenotype in autism to see if it can be conceptualized as two simpler, but still familial, dimensional phenotypes of language and non-verbal IQ. We assembled 80 sibpairs with either autism, Asperger syndrome or atypical autism. To see whether the familial correlation on language scores was accounted for by the familial correlation on non-verbal IQ, residual language scores were calculated for each member of the sibpair based on a multiple regression equation using their IQ score as an explanatory or independent variable and controlling for the age and gender of the affected individual. These residual scores were then used to calculate intraclass correlations between affected sibs. This process was repeated using IQ as the dependent variable and language as a covariate. Within affected individuals there was a strong relation between non-verbal IQ (as measured by the Leiter performance scale) and language (as measured by the Vineland Communication Scale). In addition, there was familial correlation between sibs on both measures. Evidence of familial aggregation on both non-verbal IQ and language remained even after partialling out the effect of the covariates by regression analysis and by generalized estimating equation. These findings suggest that non-verbal IQ and language in PDD may arise from independent genetic mechanisms. The implications of this finding for linkage analysis and for identifying genetically informative phenotypes are discussed.

PMID:
17520691
DOI:
10.1002/ajmg.b.30561
[Indexed for MEDLINE]
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32.
Autism. 2007 May;11(3):279-86.

Lack of evidence for increased genetic loading for autism among families of affected females: a replication from family history data in two large samples.

Author information

1
Baylor College of Medicine, Houston, USA. kochel@bcm.tmc.edu

Abstract

Both the broad and narrow phenotypes of autism have been consistently observed in family members of affected individuals. Additionally, autism spectrum disorders (ASDs) present four times more often in males than in females, for reasons that are currently unknown. In this study, we examined whether there were differences in familial loading of ASD among families of male versus female probands. Analyses were conducted with existing data from two distinct samples. The first sample contained 417 individuals with autism and Asperger's disorder and included information on the ASD diagnoses of their first- and second-degree relatives. The second sample consisted of 405 sibships participating in the Autism Genetic Resource Exchange, of which one or more siblings had an ASD diagnosis. Results from both samples did not suggest significant differences in the prevalence of ASD among relatives of affected males versus females.

PMID:
17478580
DOI:
10.1177/1362361307076857
[Indexed for MEDLINE]
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33.
Science. 2007 Apr 20;316(5823):445-9. Epub 2007 Mar 15.

Strong association of de novo copy number mutations with autism.

Author information

1
Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA. sebat@cshl.edu

Abstract

We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence in situ hybridization, and microsatellite genotyping. Confirmed de novo CNVs were significantly associated with autism (P = 0.0005). Such CNVs were identified in 12 out of 118 (10%) of patients with sporadic autism, in 2 out of 77 (3%) of patients with an affected first-degree relative, and in 2 out of 196 (1%) of controls. Most de novo CNVs were smaller than microscopic resolution. Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized.

PMID:
17363630
PMCID:
PMC2993504
DOI:
10.1126/science.1138659
[Indexed for MEDLINE]
Free PMC Article
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34.

Structure of the autism symptom phenotype: A proposed multidimensional model.

Author information

1
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada.

Abstract

BACKGROUND:

The main objective of this study was to develop a comprehensive, empirical model that will allow the reorganization of the structure of the pervasive developmental disorder symptom phenotype through factor analysis into more homogeneous dimensions.

METHOD:

The sample consisted of 209 children with pervasive developmental disorder referred for genetic studies. The 12 subdomains of the Autism Diagnostic Interview-Revised were used in a factor analysis, and the emerged factors were then correlated with independent variables (measures of cognition, adaptive function, and diagnostic subtype). Intraclass correlation coefficients were calculated to investigate any familial relationships between sibling pairs on the derived factors.

RESULTS:

The autism symptom phenotype is indeed made up of three factors or domains that are somewhat different than those used in DSM-IV. Rather, domains include social-communication, inflexible language and behavior, and repetitive sensory and motor behavior. For the three factors, only a small amount of variance was accounted for by cognitive and adaptive functioning. Only inflexible language and behavior showed familial correlation between siblings.

CONCLUSIONS:

The pervasive developmental disorder symptom phenotype is composed of three domains or factors: social-communication, inflexible language and behavior, and repetitive sensory and motor behavior. Each child with pervasive developmental disorder can be characterized by these dimensions, which give an informative picture of the clinical presentation and a quantitative estimate of the severity of the disability.

[Indexed for MEDLINE]
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35.
Autism. 2006 Nov;10(6):629-41.

Parents' experience of having a child with autism and learning disabilities living in a group home: a case study.

Author information

1
Health Science Division, Faculty of Medicine, Lund University, Lund, Sweden. ylva.benderix@med.lu.se

Abstract

Some children with autism and learning disabilities also have aberrant behaviours that are difficult to regulate and stressful for both the child and family members. This case study concerns experiences of 10 parents from five families before and 2 years after entrusting their 10- to 11-year-old child with autism to a group home. Hermeneutic phenomenological analysis of narrative interviews with the parents before the child's moving showed them experiencing grief and sorrow, total exhaustion because of inability to regulate their child's behaviours, social isolation, and negative effects on the child's siblings, but experiencing themselves as more sympathetic than previously towards other people with problems. Two years later they experienced relief for the family due to the group home arrangement and the child's improvement, but with an ethical dilemma which made them feel guilty, despite increased hope for the future. Some also felt unhappy with the staff situation at the group home.

PMID:
17088278
DOI:
10.1177/1362361307070902
[Indexed for MEDLINE]
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36.
J Autism Dev Disord. 2007 Jul;37(6):1155-65.

Inhibitory control in children with autism spectrum disorder.

Author information

1
Department of Psychology, Washington University, St. Louis, MO, USA. research@shawnchrist.com

Abstract

Impairments in executive abilities such as cognitive flexibility have been identified in individuals with autism spectrum disorder (ASD). It remains unclear, however, whether such individuals also experience impairments in another executive ability: inhibitory control. In the present study, we administered three inhibitory tasks to 18 children with ASD, 23 siblings of children with ASD, and 25 typically developing children. After controlling for individual differences in age, overall IQ, and processing speed, children with ASD demonstrated impaired performance on two of the three inhibitory tasks. Results suggest that children with ASD experience circumscribed deficits in some but not all aspects of inhibitory control. More generally, the findings underscore the importance of using multiple measures to assess a putative single cognitive ability.

PMID:
17066307
DOI:
10.1007/s10803-006-0259-y
[Indexed for MEDLINE]
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37.
J Intellect Dev Disabil. 2006 Jun;31(2):77-86.

Adjustment, sibling problems and coping strategies of brothers and sisters of children with autistic spectrum disorder.

Author information

1
School of Education, University of Queensland, Australia.

Abstract

BACKGROUND:

Siblings of children with autistic spectrum disorder (ASD) express more problem behaviours and experience more difficulties in their relationships than do children in families where all children are developing typically. We know little about what contributes to these difficulties.

METHOD:

Mothers of a child with ASD completed the Child Behavior Checklist (Achenbach, 1991) with respect to a non-disabled sibling. Siblings responded to a questionnaire tapping their knowledge about their brother or sister's disorder. They reported on problems they had experienced with their brother or sister with ASD and on the coping strategies they had used in response to these events. Problems were classified into 1 of 5 problem types.

RESULTS:

Aggressive behaviour was the most commonly reported interaction problem and anger was the usual response. Siblings did not generally choose blaming (either self or other) as a coping strategy when facing difficulties with their brother or sister with ASD. Neither coping strategies nor knowledge of ASD were associated with adjustment. Forty percent of non-disabled siblings had scores on the Child Behavior Checklist that placed them in the borderline or clinical range.

CONCLUSIONS:

The current study indicated that siblings of children with ASD are at increased risk of developing internalising behaviour problems. The contributing factors to this outcome are unknown at this point. It is important for research to focus on dynamic variables in the search for these contributors, as they are open to change.

PMID:
16782592
DOI:
10.1080/13668250600710864
[Indexed for MEDLINE]
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38.
J Child Psychol Psychiatry. 2005 Sep;46(9):963-71.

Effects of familial risk factors and place of birth on the risk of autism: a nationwide register-based study.

Author information

1
Centre for Basic Psychiatric Research, Psychiatric Hospital in Aarhus, Aarhus University Hospital, Denmark. mbl@psykiatri.aaa.dk

Abstract

BACKGROUND:

The etiology of autism is unknown. A strong genetic component has been detected but non-genetic factors may also be involved in the etiology.

METHODS:

We used data from the Danish Psychiatric Central Register and the Danish Civil Registration System to study some risk factors of autism, including place of birth, parental place of birth, parental age, family history of psychiatric disorders, and paternal identity.

RESULTS:

A total of 943,664 children younger than ten years were followed from 1994 to 2001; of those, 818 children developed autism. The highest risks of autism were found in siblings of children with autism, or Asperger's syndrome and other pervasive developmental disorders (PDDs), with relative risks of 22 and 13, respectively. The relative risk of autism in the child was about twice as high if the mother had been diagnosed with a psychiatric disorder. The risk of autism was associated with increasing degree of urbanisation of the child's place of birth and with increasing paternal, but not maternal, age. An increased relative risk of 1.4 was found if the mother was born outside Europe, and in children of parents who were born in different countries.

CONCLUSIONS:

The highest risk of autism was found in families with a history of autism, or Asperger's syndrome and other PDDs in siblings, supporting the commonly accepted knowledge that genetic factors are involved in the etiology of autism.

[Indexed for MEDLINE]
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39.
J Autism Dev Disord. 2005 Apr;35(2):177-82.

A family history study of Asperger syndrome.

Author information

1
Division of Child Psychiatry, University of Michigan Medical Center, Ann Arbor, MI 48109-0277, USA. mghaziud@umich.edu

Abstract

Asperger syndrome (AS) is a childhood-onset disorder often described as a mild variant of autism. Although classified as a distinct disorder in the DSM-IV, its overlap with autism continues to be a matter of ongoing debate. While the family genetic origins of autism are well established, few studies have investigated this topic in AS using current operational criteria. In this report, we examined the family psychiatric history of 58 subjects with AS diagnosed according to DSM-IV criteria (48 males; mean age 13.34; mean full scale IQ 104.87). All subjects had a history of mild autistic social deficits; focused special interests; normal level of intelligence; and an odd and often pedantic manner of speaking. None had a previous diagnosis of autism. Of the 58 subjects with Asperger syndrome, three had first degree relatives with AS; nine (15%) had a family history of schizophrenia; and 35 (60%) had a family history of depression. Of the 64 siblings, four had a diagnosis of AS and none of autism. Compared with a group of 39 subjects with normal intelligence autism (high functioning autism, HFA; 33 males; mean age 15.34; mean full scale IQ 85.89) subjects with AS were more likely to have relatives with depression; schizophrenia; and the broader autistic phenotype. Possible reasons for and implications of these findings are discussed.

PMID:
15909404
[Indexed for MEDLINE]
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40.
Arch Gen Psychiatry. 2004 Jun;61(6):618-27.

Perinatal factors and the development of autism: a population study.

Author information

1
Schools of Population Health and Psychiatry and Clinical Neurosciences, University of Western Australia, Crawley, Australia. emma.glasson@health.wa.gov.au

Abstract

BACKGROUND:

Autism is considered to have a genetic basis, although exposure to certain stimuli in the prenatal period has been implicated to be causal in some cases. Some investigations have shown an association with obstetric complications but findings have been inconsistent owing to differences in sampling and methods.

OBJECTIVE:

To examine the association of obstetric factors with autism spectrum disorders for a cohort of children, using obstetric data contained in a statutory database collected at the time of birth.

DESIGN:

Subjects born in Western Australia between 1980 and 1995 and diagnosed with an autism spectrum disorder by 1999 were included as cases (n = 465). Siblings of the cases (n = 481) and a random population-based control group (n = 1313) were compared with the cases on obstetric information contained in the Maternal and Child Health Research Database of Western Australia.

RESULTS:

Compared with control subjects, cases had significantly older parents and were more likely to be firstborn. Case mothers had greater frequencies of threatened abortion, epidural caudal anesthesia use, labor induction, and a labor duration of less than 1 hour. Cases were more likely to have experienced fetal distress, been delivered by an elective or emergency cesarean section, and had an Apgar score of less than 6 at 1 minute. Cases with a diagnosis of autism had more complications than those with pervasive developmental disorder not otherwise specified or Asperger syndrome. Nonaffected siblings of cases were more similar to cases than control subjects in their profile of complications.

CONCLUSIONS:

Autism is unlikely to be caused by a single obstetric factor. The increased prevalence of obstetric complications among autism cases is most likely due to the underlying genetic factors or an interaction of these factors with the environment.

PMID:
15184241
DOI:
10.1001/archpsyc.61.6.618
[Indexed for MEDLINE]
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41.
Pediatrics. 2004 May;113(5):e472-86.

The genetics of autism.

Author information

1
Class of 2004, Albert Einstein College of Medicine, Bronx, New York 10461, USA.

Abstract

Autism is a complex, behaviorally defined, static disorder of the immature brain that is of great concern to the practicing pediatrician because of an astonishing 556% reported increase in pediatric prevalence between 1991 and 1997, to a prevalence higher than that of spina bifida, cancer, or Down syndrome. This jump is probably attributable to heightened awareness and changing diagnostic criteria rather than to new environmental influences. Autism is not a disease but a syndrome with multiple nongenetic and genetic causes. By autism (the autistic spectrum disorders [ASDs]), we mean the wide spectrum of developmental disorders characterized by impairments in 3 behavioral domains: 1) social interaction; 2) language, communication, and imaginative play; and 3) range of interests and activities. Autism corresponds in this article to pervasive developmental disorder (PDD) of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition and International Classification of Diseases, Tenth Revision. Except for Rett syndrome--attributable in most affected individuals to mutations of the methyl-CpG-binding protein 2 (MeCP2) gene--the other PDD subtypes (autistic disorder, Asperger disorder, disintegrative disorder, and PDD Not Otherwise Specified [PDD-NOS]) are not linked to any particular genetic or nongenetic cause. Review of 2 major textbooks on autism and of papers published between 1961 and 2003 yields convincing evidence for multiple interacting genetic factors as the main causative determinants of autism. Epidemiologic studies indicate that environmental factors such as toxic exposures, teratogens, perinatal insults, and prenatal infections such as rubella and cytomegalovirus account for few cases. These studies fail to confirm that immunizations with the measles-mumps-rubella vaccine are responsible for the surge in autism. Epilepsy, the medical condition most highly associated with autism, has equally complex genetic/nongenetic (but mostly unknown) causes. Autism is frequent in tuberous sclerosis complex and fragile X syndrome, but these 2 disorders account for but a small minority of cases. Currently, diagnosable medical conditions, cytogenetic abnormalities, and single-gene defects (eg, tuberous sclerosis complex, fragile X syndrome, and other rare diseases) together account for <10% of cases. There is convincing evidence that "idiopathic" autism is a heritable disorder. Epidemiologic studies report an ASD prevalence of approximately 3 to 6/1000, with a male to female ratio of 3:1. This skewed ratio remains unexplained: despite the contribution of a few well characterized X-linked disorders, male-to-male transmission in a number of families rules out X-linkage as the prevailing mode of inheritance. The recurrence rate in siblings of affected children is approximately 2% to 8%, much higher than the prevalence rate in the general population but much lower than in single-gene diseases. Twin studies reported 60% concordance for classic autism in monozygotic (MZ) twins versus 0 in dizygotic (DZ) twins, the higher MZ concordance attesting to genetic inheritance as the predominant causative agent. Reevaluation for a broader autistic phenotype that included communication and social disorders increased concordance remarkably from 60% to 92% in MZ twins and from 0% to 10% in DZ pairs. This suggests that interactions between multiple genes cause "idiopathic" autism but that epigenetic factors and exposure to environmental modifiers may contribute to variable expression of autism-related traits. The identity and number of genes involved remain unknown. The wide phenotypic variability of the ASDs likely reflects the interaction of multiple genes within an individual's genome and the existence of distinct genes and gene combinations among those affected. There are 3 main approaches to identifying genetic loci, chromosomal regions likely to contain relevant genes: 1) whole genome screens, searching for linkage of autism to shared genetic markers in populations of multiplex families (families with >1 affected family member; 2) cytogenetic studies that may guide molecular studies by pointing to relevant inherited or de novo chromosomal abnormalities in affected individuals and their families; and 3) evaluation of candidate genes known to affect brain development in these significantly linked regions or, alternatively, linkage of candidate genes selected a priori because of their presumptive contribution to the pathogenesis of autism. Data from whole-genome screens in multiplex families suggest interactions of at least 10 genes in the causation of autism. Thus far, a putative speech and language region at 7q31-q33 seems most strongly linked to autism, with linkages to multiple other loci under investigation. Cytogenetic abnormalities at the 15q11-q13 locus are fairly frequent in people with autism, and a "chromosome 15 phenotype" was described in individuals with chromosome 15 duplications. Among other candidate genes are the FOXP2, RAY1/ST7, IMMP2L, and RELN genes at 7q22-q33 and the GABA(A) receptor subunit and UBE3A genes on chromosome 15q11-q13. Variant alleles of the serotonin transporter gene (5-HTT) on 17q11-q12 are more frequent in individuals with autism than in nonautistic populations. In addition, animal models and linkage data from genome screens implicate the oxytocin receptor at 3p25-p26. Most pediatricians will have 1 or more children with this disorder in their practices. They must diagnose ASD expeditiously because early intervention increases its effectiveness. Children with dysmorphic features, congenital anomalies, mental retardation, or family members with developmental disorders are those most likely to benefit from extensive medical testing and genetic consultation. The yield of testing is much less in high-functioning children with a normal appearance and IQ and moderate social and language impairments. Genetic counseling justifies testing, but until autism genes are identified and their functions are understood, prenatal diagnosis will exist only for the rare cases ascribable to single-gene defects or overt chromosomal abnormalities. Parents who wish to have more children must be told of their increased statistical risk. It is crucial for pediatricians to try to involve families with multiple affected members in formal research projects, as family studies are key to unraveling the causes and pathogenesis of autism. Parents need to understand that they and their affected children are the only available sources for identifying and studying the elusive genes responsible for autism. Future clinically useful insights and potential medications depend on identifying these genes and elucidating the influences of their products on brain development and physiology.

PMID:
15121991
[Indexed for MEDLINE]
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42.
J Child Psychol Psychiatry. 2004 Feb;45(2):412-8.

Mind-reading difficulties in the siblings of people with Asperger's syndrome: evidence for a genetic influence in the abnormal development of a specific cognitive domain.

Author information

1
Department of Psychological Medicine, University of Glasgow, Academic Centre, Gartnavel Royal Hospital, Scotland, UK. l.dorris@clinmed.gla.ac.uk

Abstract

BACKGROUND:

Previous research suggests that the phenotype associated with Asperger's syndrome (AS) includes difficulties in understanding the mental states of others, leading to difficulties in social communication and social relationships. It has also been suggested that the first-degree relatives of those with AS can demonstrate similar difficulties, albeit to a lesser extent. This study examined 'theory of mind' (ToM) abilities in the siblings of children with AS relative to a matched control group.

METHOD:

27 children who had a sibling with AS were administered the children's version of the 'Eyes Test' (Baron-Cohen, Wheelwright, Stone, & Rutherford, 1999). The control group consisted of 27 children matched for age, sex, and a measure of verbal comprehension, and who did not have a family history of AS/autism.

RESULTS:

A significant difference was found between the groups on the Eyes Test, the 'siblings' group showing a poorer performance on this measure of social cognition. The difference was more pronounced among female siblings.

DISCUSSION:

These results are discussed in terms of the familial distribution of a neuro-cognitive profile associated with AS, which confers varying degrees of social handicap amongst first-degree relatives. The implication of this finding with regard to the autism/AS phenotype is explored, with some discussion of why this neuro-cognitive profile (in combination with corresponding strengths) may have an evolutionary imperative.

PMID:
14982254
[Indexed for MEDLINE]
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43.
J Autism Dev Disord. 2003 Aug;33(4):383-94.

Sibling relationships when a child has autism: marital stress and support coping.

Author information

1
Autism Consultant, Portsmouth, VA, USA.

Abstract

Family systems theory was employed to study sibling relationships in 50 families with a child with autism. Typically developing siblings expressed satisfaction with their sibling relationships. Parents were somewhat less positive about the sibling relationship than were the siblings themselves. As hypothesized, stress in the marital relationship was associated with compromised sibling relationships. Informal social support buffered the deleterious effects of marital stress on positive, but not negative, aspects of the sibling relationship. Contrary to predictions, families experiencing high marital stress who sought greater support from formal resources external to the family had typically developing siblings who reported a higher level of negative sibling behaviors than families who sought low levels of formal support. Findings reinforce the importance of considering family context as a contributor to the quality of the sibling relationship.

PMID:
12959417
[Indexed for MEDLINE]
44.
J Autism Dev Disord. 2003 Feb;33(1):93-7.

Plasma amino acid levels in children with autism and their families.

Author information

1
Pharmaceutical Sciences Research Institute, Aston University, Birmingham, B4 7ET, United Kingdom.

Abstract

Plasma amino acid levels were measured in autistic and Asperger syndrome patients, their siblings, and parents. The results were compared with values from age-matched controls. Patients with autism or Asperger syndrome and their siblings and parents all had raised glutamic acid, phenylalanine, asparagine, tyrosine, alanine, and lysine (p < .05) than controls, with reduced plasma glutamine. Other amino acids were at normal levels. These results show that children with autistic spectrum disorders come from a family background of dysregulated amino acid metabolism and provide further evidence for an underlying biochemical basis for the condition.

PMID:
12708584
[Indexed for MEDLINE]
45.
Am J Hum Genet. 2002 Oct;71(4):941-6. Epub 2002 Sep 12.

On the twin risk in autism.

Author information

1
Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, CA, 94304, USA. joachimh@stanford.edu

Abstract

Autism is considered by many to be the most strongly genetically influenced multifactorial childhood psychiatric disorder. In the absence of any known gene or genes, the main support for this is derived from family and twin studies. Two recent studies (Greenberg et al. 2001; Betancur et al. 2002) suggested that the twinning process itself is an important risk factor in the development of autism. If true, this would have major consequences for the interpretation of twin studies. Both studies compared the number of affected twin pairs among affected sib pairs to expected values in two separate samples of multiplex families and reported a substantial and significant excess of twin pairs. Using data from our epidemiological study in Western Australia, we investigated the possibility of an increased rate of autism in twins. All children born between 1980 and 1995 with autism, Asperger syndrome, or pervasive developmental disorder not otherwise specified (PDD-NOS) were ascertained. Of the 465 children with a diagnosis, 14 were twin births (rate 30.0/1,000) compared to 9,640 children of multiple births out of a total of 386,637 births in Western Australia between 1980 and 1995 (twin rate weighted to number of children with autism or PDD per year 26.3/1,000). These data clearly do not support twinning as a substantial risk factor in the etiology of autism. We demonstrate that the high proportion of twins found in affected-sib-pair studies can be adequately explained by the high ratio of concordance rates in monozygotic (MZ) twins versus siblings and the distribution of family size in the population studied. Our results are in agreement with those of two similar studies by Croen et al. (2002) in California and Hultman et al. (2002) in Sweden.

PMID:
12297988
PMCID:
PMC378547
DOI:
10.1086/342990
[Indexed for MEDLINE]
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46.
Scand J Caring Sci. 2000;14(3):172-8.

Harmonizing dilemmas. Siblings of children with DAMP and Asperger syndrome's experiences of coping with their life situations.

Author information

1
Nordic School of Public Health, Gothenburg, Sweden. dellve@home.se

Abstract

The aim of this qualitative study was to describe, from their own perspective and experiences, how siblings of children with deficits in attention, motor control and perception (DAMP) and Asperger syndrome cope with their life situations in their families. Fifteen adolescent females 12-18 years old, siblings of boys with DAMP (8 subjects) and Asperger syndrome (7 subjects), were interviewed. The method used in sampling and analysis of interview protocols was the constant comparative method for grounded theory. The inductive categorization of data produced two core concepts, one about the siblings' life situations in DAMP and Asperger syndrome ('dilemma of requirements and concerns') and one about the siblings' coping processes ('harmonizing'). Of the six categories identified, four were categories of the processes of coping ('gaining understanding', 'gaining independence', 'following a bonding responsibility' and 'balancing'). The qualitative differences between coping processes were related to the two categories of context to cope within the experienced dilemma 'requirements' and 'concerns'. The findings contribute to a deeper understanding of the siblings' life situations, and may be important for health personnel in encounter families and for identifying siblings with special needs. The findings may also aid in the development of preventive programs for siblings of children with DAMP and Asperger syndrome.

PMID:
12035268
[Indexed for MEDLINE]
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47.
Issues Compr Pediatr Nurs. 2002 Jan-Mar;25(1):43-57.

Middle-class mothers' perceptions of peer and sibling victimization among children with Asperger's syndrome and nonverbal learning disorders.

Author information

1
Family Research Laboratory & Department of Nursing, University of New Hampshire, Durham 03824, USA. liza.little@unh.edu

Abstract

This article describes the yearly prevalence and frequency of peer and sibling victimization as reported by a large national sample of middle-class mothers of children with Asperger's syndrome and nonverbal learning disorders. An anonymous, mailed survey was sent to families solicited from two national Internet sites for parents of children with Asperger's and nonverbal learning disorders using the Comprehensive Juvenile Victimization scale and three questions designed to measure peer shunning. The overall prevalence rate reported by mothers of peer victimization was 94%. Mothers reported that almost three-quarters of their children had been hit by peers or siblings in the past year and 75% had been emotionally bullied. On the more severe end of peer victimization, 10% of the children were attacked by a gang in the past year and 15% were victims of nonsexual assaults to the genitals. Peer shunning also was common. A third of the children had not been invited to a single birthday party in the past year, and many were eating alone at lunch or were picked last for teams. Peer shunning was significantly correlated with peer bullying and assault. The high rates of peer shunning and peer victimization reported suggest that children with Asperger's and nonverbal learning disorders may require further scrutiny and attention concerning their victimization experiences by peers and siblings. Implications for nursing professionals are reviewed.

PMID:
11934121
[Indexed for MEDLINE]
48.
Am J Hum Genet. 2001 Aug;69(2):327-40. Epub 2001 Jul 10.

A genomewide screen for autism susceptibility loci.

Author information

1
Columbia Genome Center and Department of Psychiatry, Columbia University, New York, NY 10032, USA.

Abstract

We report the analysis of 335 microsatellite markers genotyped in 110 multiplex families with autism. All families include at least two "affected" siblings, at least one of whom has autism; the remaining affected sibs carry diagnoses of either Asperger syndrome or pervasive developmental disorder. Affected sib-pair analysis yielded multipoint maximum LOD scores (MLS) that reach the accepted threshold for suggestive linkage on chromosomes 5, X, and 19. Nominal evidence for linkage (point-wise P<.05) was obtained on chromosomes 2, 3, 4, 8, 10, 11, 12, 15, 16, 18, and 20, and secondary loci were found on chromosomes 5 and 19. Analysis of families sharing alleles at the putative X chromosomal linked locus and one or more other putative linked loci produced an MLS of 3.56 for the DXS470-D19S174 marker combination. In an effort to increase power to detect linkage, scan statistics were used to evaluate the significance of peak LOD scores based on statistical evidence at adjacent marker loci. This analysis yielded impressive evidence for linkage to autism and autism-spectrum disorders with significant genomewide P values <.05 for markers on chromosomes 5 and 8 and with suggestive linkage evidence for a marker on chromosome 19.

PMID:
11452361
PMCID:
PMC1235325
[Indexed for MEDLINE]
Free PMC Article
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49.
J Child Psychol Psychiatry. 2001 Mar;42(3):309-16.

Exploring the cognitive phenotype of autism: weak "central coherence" in parents and siblings of children with autism: II. Real-life skills and preferences.

Author information

1
Institute of Psychiatry, Kings College, London, UK.

Abstract

Information on everyday life activities and preferences in both social and nonsocial domains was obtained from parents and children who had taken part in an experimental study of central coherence. Comparisons were made between parents who had a son with autism, parents with a dyslexic son, and families without a history of developmental disorder, as well as the male siblings in these families. Data on everyday preferences and abilities were elicited by means of an experimental questionnaire. Significant group differences in social and nonsocial preferences were found, suggesting that some parents showed similarities with their son with autism, in preference for nonsocial activities and ability in detail-focused processing. A similar experimental questionnaire, completed by parents on behalf of their sons, discriminated between autism group probands and controls, but did not differentiate sibling groups. The relevance of the nonsocial items to central coherence is discussed in the light of the findings in Part I: autism parents who reported more autism-related nonsocial (but not social) preferences, tended to show a piecemeal processing style on the experimental tasks.

PMID:
11321200
[Indexed for MEDLINE]
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50.
J Child Psychol Psychiatry. 2001 Mar;42(3):299-307.

Exploring the cognitive phenotype of autism: weak "central coherence" in parents and siblings of children with autism: I. Experimental tests.

Author information

1
Institute of Psychiatry, Kings College, London.

Abstract

Previous twin and family studies have indicated that there are strong genetic influences in the etiology of autism, and provide support for the notion of a broader phenotype in first-degree relatives. The present study explored this phenotype in terms of one current cognitive theory of autism. Parents and brothers of boys with autism, boys with dyslexia, and normal boys were given tests of "central coherence", on which children with autism perform unusually well due to an information-processing bias favouring part/detail processing over processing of wholes/meaning. Results indicated that fathers of boys with autism, as a group, showed piecemeal processing across four tests of central coherence. This was not true for any other group. These findings raise the possibility that the broader autism phenotype may include a "cognitive style" (weak central coherence) that can confer information-processing advantages.

PMID:
11321199
[Indexed for MEDLINE]
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51.
Dev Med Child Neurol. 2001 Mar;43(3):160-4.

The 2nd to 4th digit ratio and autism.

Author information

1
Population and Evolutionary Biology Research Group, School of Biological Sciences, University of Liverpool, United Kingdom.

Abstract

It has been suggested that autism may arise as the result of exposure to high concentrations of prenatal testosterone. There is evidence that the ratio of the lengths of the 2nd and 4th digit (2D:4D) may be negatively correlated with prenatal testosterone. We measured 2D:4D in 95 families recruited via the National Autistic Society, UK. The sample comprised a total 72 children with autism (62 males, 10 females; age range 2 to 14 years), including 23 children (20 males, three females) with Asperger syndrome (AS), 34 siblings, 88 fathers, 88 mothers and sex- and age-matched control participants. We found that the 2D:4D ratios of children with autism, their siblings, fathers and mothers were lower than population normative values. Children with AS, who share the social and communicative symptoms of autism but have normal or even high IQ, had higher 2D:4D ratios than children with autism but lower ratios than population normative values. There were positive associations between 2D:4D ratios of children with autism and the ratios of their relatives. Children with autism had lower than expected 2D:4D ratios and children with AS higher ratios than expected in relation to their fathers' 2D:4D ratio. It was concluded that 2D:4D ratio may be a possible marker for autism which could implicate prenatal testosterone in its aetiology.

PMID:
11263685
[Indexed for MEDLINE]
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52.
Eur Child Adolesc Psychiatry. 1993 Jan;2(1):44-9. doi: 10.1007/BF02098829.

Three siblings with Asperger syndrome: A family case study.

Abstract

Reports of multiple incidence of Asperger syndrome have suggested links between Asperger syndrome and autism. In this case study, we describe three siblings with Asperger syndrome based on the ICD-10 criteria. There was no family history of mental retardation or of autism. We propose that in some families, Asperger syndrome may occur as a distinct clinical entity and show no overlap with autism.

PMID:
21590528
DOI:
10.1007/BF02098829
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53.
Dev Med Child Neurol. 1992 May;34(5):389-98.

Siblings and parents of children with autism: a controlled population-based study.

Author information

1
Child Neuropsychiatry Clinic, Annedals Clinics, Göteborg, Sweden.

Abstract

The siblings and parents of 35 children with infantile autism/autistic disorder were compared with those of children with deficits in attention, motor control and perception (DAMP) and of normal children for reported speech and language problems, reading and spelling problems, social deficits and psychiatric disorders. Children with autism tended more often to be the first and only child and there was some support for genetic stoppage in this group. Learning disorders were equally common among siblings and parents of the autism and normal groups, but less common compared with the DAMP group. Asperger syndrome was more common among first-degree relatives of children with autism compared with normal children. There was a tendency for schizo-affective disorder to be more common among mothers of children with autism. The findings are discussed in the context of a genetic model for the development of autism.

PMID:
1592192
[Indexed for MEDLINE]
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