Format
Sort by

Send to

Choose Destination

Search results

Items: 4

1.
Vision Res. 2012 Dec 15;75:77-87. doi: 10.1016/j.visres.2012.08.005. Epub 2012 Aug 24.

Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.

Author information

1
University of Tennessee Health Science Center, Hamilton Eye Institute, Memphis, TN 38163, USA.

Abstract

PURPOSE:

To characterize the phenotype of Bardet-Biedl syndrome (BBS) patients homozygous for the BBS1 M390R mutation.

METHODS:

Three patients [PT1, F, 27 years old (yo) at last examination, 14-year follow-up (F/U) PT2, F, 15-yo PT3, M, 15-yo, both 1-year F/U] underwent eye exams, Goldmann visual fields (GVFs), dark- (DA) and light-adapted (LA) electroretinograms (ERGs), spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF). Vision and systemic history were also collected.

RESULTS:

All patients had night blindness, hyperopic astigmatism, ptosis or mild blepharospasm, foot polydactyly, 5th finger clinodactyly, history of headaches, and variable, diet-responsive obesity. Two had asthma, PT1 was developmentally delayed, PT2 had Asperger-like symptoms, and PT3 had normal cognition. At age 14, acuity was 20/100 in PT1, who had nystagmus since age 2, 20/40 in PT2 and 20/30 in PT3. By 27yo PT1 progressed to 20/320, by 15 yo PT2 was 20/60 and PT3 remained stable. PT1 had well preserved peripheral GVFs, with minimal progression over 10 years of F/U. PT2 and PT3 presented with ring scotomas and I4e<5°. All patients had severe generalized visual sensitivity depression. ERGs were consistently recordable (also rod ERG in PT3 after 60 min DA), but progressed to non-recordable in PT1. Mixed DA ERGs exhibited electronegativity. In PT3, this was partly due to a bleaching effect during bright-flash DA averaging, partly to ON≫OFF LA response compromise. PT2 and 3 had, on SD-OCTs, generalized macular thinning, normal retinal lamination, and widespread photoreceptor outer/inner segment attenuation except foveally, and multiple rings of abnormal FAF configuring a complex bull's eye-pattern. PT1 had macular atrophy. All patients also had peripapillary nerve fiber layer thickening.

CONCLUSIONS:

The observed phenotype matches very closely that reported in patients by Azari et al. (IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the characterization of important ERG response characteristics that provide insight in the pathogenesis of retinopathy in these patients. Our findings confirm the consistent pathogenicity of the BBS1 M390R mutation.

PMID:
22940089
DOI:
10.1016/j.visres.2012.08.005
[Indexed for MEDLINE]
Free full text
Icon for Elsevier Science
2.
Nutr Health. 2011;20(3-4):171-82.

Infantile autism: a chronic psychosis since infancy due to synaptic pruning of the supplementary motor area.

Author information

1
Institute of Neuroscience, University of Oslo.

Abstract

The rise in infantile autism, learning problems, cognitive decline with age, Alzheimer's, Parkinson's diseases and the SIDS epidemic, has a common cause in the rising dietary deficit in Omega-3 brain-food. This paper suggests that aside from the wider concept of autism spectrum disorders (ASD) and pervasive developmental disorders (PDD), the rise in infantile autism (IA) in the last decade is the effect of deficient brain-food (Omega-3). The consequent delay of development, prolongs the 2nd regressive event in infancy to pruning of the centre in the Medial Frontal Lobe System that connects hippocampus and singulum. With a consequently defective supplementary motor area (SMA), the Delayed Response Function is affected leading to persistent psychosis. Post-pubertal episodic psychoses are associated with acute reduction of excitation, a risk of breakdown of circuitry, insufficient fill-in mechanisms, and silent spots. An acute psychosis occurs if the silent spots compromise SMA. Only two brain areas have continuous neurogenesis, indicating their important functions: the Hippocampus and Olfactory Bulb that belongs to the lateral frontal lobe system essential to survival. Concerned with necessity of action in response to the environment, it relies upon short-term memory and acute feedback mechanisms influenced by emotion and motivation from the external world. In contrast, the medial frontal lobe network is controlled by feed-forward predictive mechanisms related to storage of information The Delayed Response Function is mastered at 7 months, when 2nd event occurs with pruning of axons and dendrites. An abolished or defective delayed response function seriously incapacitates an individual: a defective "social brain" with an inability for conscious action and to communicate, predominates in IA. There is a near lack of speech, despite normal vision and hearing in the minority without marked adversity in pregnancy, at delivery or in infancy. The recent rise in IA despite no rise in adversity signifies a rising deficiency in brain-food. This is suggested by a changing clinical picture: no Mental Retardation in an IA majority. Deficit in olfaction is pathognomonic in schizophrenia since 30 yrs and distinguishes the Asperger syndrome. If brain-food deficiency alone sufficiently prolongs pruning to cause absent activity in SMA in infancy, less mentally retarded IA from other causes might be observed. Deficit in brain-food was evident in the Sudden Infant Death Syndrome: birthweight averaged 200-300g lower than sibs, Omega-3 levels in brainstem were lower than controls. Only 20% SIDS died in first hypoxic episode, suggesting such episodes are more frequent than we imagined. Children with learning-behaviour problems have similarly depressed birthweight. A general deficiency in omega-3 contributes to the lacking reduction in Schizophrenia, despite early puberty predominates. Olfactory bulb is first affected in the Alzheimer's and Parkinson's disease. Cognitive decline with age, hippocampal dysfunctions rises markedly irrespective of disease, but the major mental illnesses and Infantile Autism in particular, benefit from "brainfood" that might also prevent a development of these disorders. To secure optimal brain function in the coming generations, there is a need to change the diet now from its emphasis on protein for body growth to food for the brain. This means there is a need to increase fish and sea food consumption.

PMID:
22141191
DOI:
10.1177/026010601102000402
[Indexed for MEDLINE]
Icon for Atypon
3.
Arch Pediatr. 2008 Aug;15(8):1332-48. doi: 10.1016/j.arcped.2008.04.022. Epub 2008 Jun 17.

[Review of assessment methods used to evaluate feeding for children with pervasive developmental disorder].

[Article in French]

Author information

1
Faculté de médecine, école de réadaptation, université de Montréal, pavillon 7077, avenue du Parc, Montréal, Québec, Canada. gen_nadon@hotmail.com

Abstract

Current evaluations used by occupational therapists to assess and treat feeding problems derive mainly from the domain of dysphagia. The purpose of this article is to familiarize the reader with tools used, in research, for children with pervasive developmental disorders (PDD) and to determine if any of these meet the needs of occupational therapists. The following data bases were searched: Medline, CINAHL, HAPI and PsyINFO, using the terms pervasive developmental disorder, autism, Asperger syndrome, pervasive developmental disorder not otherwise specified, eating behavior, eating disorder, food preference, food selectivity, feeding disorders, picky eater and child. All articles published between 1980 and 2006 (n=27) were reviewed. A total of 20 studies met our selection criteria. Assessment methods are compared using the Disability Creation Model (DCP). The DCP is the Quebec alternative to the International Classification of Functioning, Disability and Health (ICF). None of the evaluation tools reviewed met all factors that may influence eating in children with PDD. Implications for research and practice in occupational therapy are discussed.

PMID:
18562184
DOI:
10.1016/j.arcped.2008.04.022
[Indexed for MEDLINE]
Icon for Elsevier Science
4.
Nutr Health. 2008;19(4):307-17.

Infantile autism: a chronic psychosis since infancy due to synaptic pruning of the supplementary motor area.

Author information

1
Institute of Neuroscience, University of Oslo.

Abstract

The rise in Infantile Autism, learning problems, cognitive decline with age, Alzheimer's, Parkinson's Diseases and the SIDS epidemic, has a common cause in the rising dietary deficit in Omega-3 brain-food. This paper suggests that aside from the wider concept of Autism Spectrum Disorders (ASD) and Pervasive Developmental Disorders (PDD), the rise in Infantile Autism (IA) in the last decade is the effect of deficient brain-food (Omega-3). The consequent delay of development prolongs the 2nd regressive event in infancy to pruning of the centre in the Medial Frontal Lobe System that connects Hippocampus and Cingulum. With a consequently defective Supplementary Motor Area (SMA), the Delayed Response Function is affected leading to persistent psychosis. Post-Pubertal Episodic Psychoses are associated with acute reduction of excitation, a risk of breakdown of circuitry, insufficient fill-in mechanisms, and silent spots. An acute psychosis occurs if the silent spots comprise of SMA. Only two brain areas have continuous neurogenesis, indicating their important functions: the Hippocampus and Olfactory Bulb that belongs to the Lateral Frontal Lobe System essential to survival. Concerned with necessity of action in response to the environment, it relies upon short-term memory and Acute Feedback Mechanisms influenced by emotion and motivation from the external world. In contrast, the Medial Frontal Lobe network is controlled by Feed-Forward Predictive Mechanisms related to storage of information. The Delayed Response Function is mastered at 7 months, when 2nd event occurs with pruning of axons and dendrites. An abolished or defective Delayed Response Function seriously incapacitates an individual: A defective "Social Brain" with an inability for conscious action and to communicate, predominates in IA. There is a near lack of speech, despite normal vision and hearing in the minority without marked adversity in pregnancy, at delivery or in infancy. I propose that the recent rise in IA despite no rise in adversity signifies a rising deficiency in brain-food. That this is so is suggested by a changing clinical picture: no Mental Retardation in an IA majority. Deficit in Olfaction is pathognomonic in schizophrenia since 30 yrs and distinguishes the Asperger Syndrome. If brain-food deficiency alone sufficiently prolongs pruning to cause absent activity in SMA in infancy, less mentally retarded IA from other causes might be observed. Deficit in brain-food was evident in the Sudden Infant Death Syndrome: birthweight averaged 200-300 g lower than sibs, Omega-3 levels in brainstem were lower than controls. Only 20 % SIDS died in first hypoxic episode, suggesting such episodes are more frequent than we imagined. Children with learning-behaviour problems have similarly depressed birthweight. A general deficiency in Omega-3 contributes to the lacking reduction in Schizophrenia, despite early puberty predominates. Olfactory Bulb is first affected in the Alzheimer's and Parkinson's Disease. Cognitive decline with age, Hippocampal dysfunctions rise markedly irrespective of disease, but the major mental illnesses and Infantile Autism in particular, benefit from "brain-food" that might also prevent a development of these disorders. To secure optimal brain function in the coming generations, there is a need to change the diet now from its emphasis on protein for body growth to food for the brain. This means there is a need to increase fish and sea food consumption.

PMID:
19326737
DOI:
10.1177/026010600801900406
[Indexed for MEDLINE]
Icon for Atypon

Supplemental Content

Loading ...
Support Center