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Autistic disorder of childhood onset

MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
Synonyms: Autistic Disorder
Modes of inheritance:
Sporadic
MedGen UID:
64410
Concept ID:
C0205422
Temporal Concept
Source: HPO
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: HPO
A phenotypic outcome (physical characteristic or disease predisposition) that is determined by more than one gene. Polygenic refers to those determined by many genes, while oligogenic refers to those determined by a few genes.
Sporadic (HPO)
SNOMED CT: Autistic disorder (408856003); Infantile autism (408857007); Kanner's syndrome (408856003); Autism (408856003); Autism disorder (408856003); Autism, childhood onset (43614003); Autistic disorder of childhood onset (43614003); Childhood autism (43614003)
 
Gene (location): SNRPN (15q11.2)
OMIM®: 209850

Disease characteristics

Excerpted from the GeneReview: Autism Spectrum Disorders
Autism comprises a clinically heterogeneous group of disorders – collectively referred to as “autism spectrum disorders” (ASD) – that share common features of impaired social relationships, impaired language and communication, and repetitive behaviors or a narrow range of interests. For most children with autism, symptoms develop gradually, although approximately 30% have a "regressive" onset usually between ages 18 and 24 months. About 50%-70% of children with autism are identified as intellectually disabled by nonverbal IQ testing and approximately 25% develop seizures. Autism can be considered complex (i.e., presence of dysmorphic features and/or microcephaly) or essential (i.e., absence of physical abnormalities and microcephaly). About 25% of children who fit the diagnostic criteria for ASD at age two to three years subsequently begin to talk and communicate, and by age six to seven years blend to varying degrees into the regular school population. The remaining 75% have lifelong disability requiring intensive parental, school, and social support.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes of Autism  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Judith H Miles  |  Rebecca B McCathren  |  Janine Stichter, et. al.   view full author information

Additional description

From OMIM
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS5 (606053), which maps to chromosome 2q; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; and AUTS18 (615032), associated with mutation in the CHD8 gene (610528). (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with an exon 2 deletion in the TMLHE gene (300777). Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.  http://www.omim.org/entry/209850

Clinical features

EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Impaired ability to form peer relationships
MedGen UID:
325221
Concept ID:
C1837649
Finding
Lack of spontaneous play
MedGen UID:
373380
Concept ID:
C1837650
Finding
Inflexible adherence to routines or rituals
MedGen UID:
324848
Concept ID:
C1837653
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Restrictive behavior
MedGen UID:
393364
Concept ID:
C2675334
Finding
Autism
MedGen UID:
504569
Concept ID:
CN000674
Finding
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Stereotypic behavior
MedGen UID:
427832
Concept ID:
CN000689
Finding
A repetitive behaviour that does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps.
Delayed speech and language development
MedGen UID:
504583
Concept ID:
CN000706
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Impaired use of nonverbal behaviors
MedGen UID:
504588
Concept ID:
CN000712
Finding
Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures.
Increased serum serotonin
MedGen UID:
488950
Concept ID:
C0877243
Finding

Professional guidelines

PubMed

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Recent clinical studies

Etiology

Ko WR, Huang JY, Chiang YC, Nfor ON, Ko PC, Jan SR, Lung CC, Chang HC, Lin LY, Liaw YP
Eur J Anaesthesiol 2015 May;32(5):303-10. doi: 10.1097/EJA.0000000000000130. PMID: 25101714
Dardas LA, Ahmad MM
Res Dev Disabil 2014 Jun;35(6):1326-33. Epub 2014 Apr 2 doi: 10.1016/j.ridd.2014.03.009. [Epub ahead of print] PMID: 24704547
Dardas LA, Ahmad MM
J Autism Dev Disord 2014 Sep;44(9):2257-63. doi: 10.1007/s10803-014-2110-1. PMID: 24696377
Gunnes N, Surén P, Bresnahan M, Hornig M, Lie KK, Lipkin WI, Magnus P, Nilsen RM, Reichborn-Kjennerud T, Schjølberg S, Susser ES, Øyen AS, Stoltenberg C
Epidemiology 2013 Nov;24(6):906-12. doi: 10.1097/01.ede.0000434435.52506.f5. PMID: 24045716
Rosman NP, Bergia BM
J Child Neurol 2013 Dec;28(12):1587-98. Epub 2013 Jan 22 doi: 10.1177/0883073812472391. [Epub ahead of print] PMID: 23340080

Diagnosis

Ko WR, Huang JY, Chiang YC, Nfor ON, Ko PC, Jan SR, Lung CC, Chang HC, Lin LY, Liaw YP
Eur J Anaesthesiol 2015 May;32(5):303-10. doi: 10.1097/EJA.0000000000000130. PMID: 25101714
Lagunju IA, Bella-Awusah TT, Omigbodun OO
Epilepsy Behav 2014 Oct;39:126-9. Epub 2014 Sep 18 doi: 10.1016/j.yebeh.2014.08.020. [Epub ahead of print] PMID: 25240124
Henry CA, Nowinski L, Koesterer K, Ferrone C, Spybrook J, Bauman M
J Child Adolesc Psychopharmacol 2014 Sep;24(7):403-6. Epub 2014 Sep 8 doi: 10.1089/cap.2014.0024. [Epub ahead of print] PMID: 25198799
Dardas LA, Ahmad MM
J Nurs Res 2014 Sep;22(3):183-91. doi: 10.1097/jnr.0000000000000023. PMID: 24731972
Rosman NP, Bergia BM
J Child Neurol 2013 Dec;28(12):1587-98. Epub 2013 Jan 22 doi: 10.1177/0883073812472391. [Epub ahead of print] PMID: 23340080

Therapy

Ko WR, Huang JY, Chiang YC, Nfor ON, Ko PC, Jan SR, Lung CC, Chang HC, Lin LY, Liaw YP
Eur J Anaesthesiol 2015 May;32(5):303-10. doi: 10.1097/EJA.0000000000000130. PMID: 25101714
Findling RL, Mankoski R, Timko K, Lears K, McCartney T, McQuade RD, Eudicone JM, Amatniek J, Marcus RN, Sheehan JJ
J Clin Psychiatry 2014 Jan;75(1):22-30. doi: 10.4088/JCP.13m8500. PMID: 24502859
Tonge B, Brereton A, Kiomall M, Mackinnon A, Rinehart NJ
Autism 2014 Feb;18(2):166-77. Epub 2012 Sep 17 doi: 10.1177/1362361312458186. [Epub ahead of print] PMID: 22987897
Mankoski R, Stockton G, Manos G, Marler S, McQuade R, Forbes RA, Marcus R
J Child Adolesc Psychopharmacol 2013 Oct;23(8):572-6. doi: 10.1089/cap.2012.0075. PMID: 24138011Free PMC Article
Ghaleiha A, Mohammadi E, Mohammadi MR, Farokhnia M, Modabbernia A, Yekehtaz H, Ashrafi M, Hassanzadeh E, Akhondzadeh S
Paediatr Drugs 2013 Dec;15(6):505-14. doi: 10.1007/s40272-013-0036-2. PMID: 23821414

Prognosis

Dardas LA, Ahmad MM
Res Dev Disabil 2014 Jun;35(6):1326-33. Epub 2014 Apr 2 doi: 10.1016/j.ridd.2014.03.009. [Epub ahead of print] PMID: 24704547
Bitsika V, Sharpley CF, Sweeney JA, McFarlane JR
Physiol Behav 2014 Mar 29;127:1-7. Epub 2014 Jan 9 doi: 10.1016/j.physbeh.2013.12.011. [Epub ahead of print] PMID: 24412722
Mankoski R, Stockton G, Manos G, Marler S, McQuade R, Forbes RA, Marcus R
J Child Adolesc Psychopharmacol 2013 Oct;23(8):572-6. doi: 10.1089/cap.2012.0075. PMID: 24138011Free PMC Article
Rosman NP, Bergia BM
J Child Neurol 2013 Dec;28(12):1587-98. Epub 2013 Jan 22 doi: 10.1177/0883073812472391. [Epub ahead of print] PMID: 23340080
Maljaars J, Noens I, Scholte E, van Berckelaer-Onnes I
J Autism Dev Disord 2012 Oct;42(10):2181-91. doi: 10.1007/s10803-012-1476-1. PMID: 22350453

Clinical prediction guides

Ko WR, Huang JY, Chiang YC, Nfor ON, Ko PC, Jan SR, Lung CC, Chang HC, Lin LY, Liaw YP
Eur J Anaesthesiol 2015 May;32(5):303-10. doi: 10.1097/EJA.0000000000000130. PMID: 25101714
Lagunju IA, Bella-Awusah TT, Omigbodun OO
Epilepsy Behav 2014 Oct;39:126-9. Epub 2014 Sep 18 doi: 10.1016/j.yebeh.2014.08.020. [Epub ahead of print] PMID: 25240124
Dardas LA, Ahmad MM
J Nurs Res 2014 Sep;22(3):183-91. doi: 10.1097/jnr.0000000000000023. PMID: 24731972
Dardas LA, Ahmad MM
Res Dev Disabil 2014 Jun;35(6):1326-33. Epub 2014 Apr 2 doi: 10.1016/j.ridd.2014.03.009. [Epub ahead of print] PMID: 24704547
Rosman NP, Bergia BM
J Child Neurol 2013 Dec;28(12):1587-98. Epub 2013 Jan 22 doi: 10.1177/0883073812472391. [Epub ahead of print] PMID: 23340080

Recent systematic reviews

Carigi T, Muratori F, Termine C, Veggiotti P, Derhemi L, Di Nardo R, Rossi G, Balottin U
Curr Clin Pharmacol 2014;9(4):377-86. PMID: 24050746
Vanderkerken L, Heyvaert M, Maes B, Onghena P
Res Dev Disabil 2013 Dec;34(12):4515-33. Epub 2013 Oct 31 doi: 10.1016/j.ridd.2013.09.030. [Epub ahead of print] PMID: 24183495
Shorter E, Wachtel LE
Acta Psychiatr Scand 2013 Jul;128(1):21-33. Epub 2013 Jan 27 doi: 10.1111/acps.12082. [Epub ahead of print] PMID: 23350770Free PMC Article
Rondeau E, Klein LS, Masse A, Bodeau N, Cohen D, Guilé JM
J Autism Dev Disord 2011 Sep;41(9):1267-76. doi: 10.1007/s10803-010-1155-z. PMID: 21153874
Brown CM, Austin DW
Prostaglandins Leukot Essent Fatty Acids 2011 Jan-Feb;84(1-2):25-30. doi: 10.1016/j.plefa.2010.09.007. PMID: 20970971

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