Smith-Lemli-Opitz Syndrome and Autism Spectrum Disorder

In addition to the association of autism spectrum disorder with specific heritable disorders (e.g., fragile X syndrome, phenylketonuria, chromosome 15q11-q13 duplication, and tuberous sclerosis), evidence for a genetic contribution includes increased recurrence risk in siblings; increased concordanc...

Full description

Saved in:
Bibliographic Details
Published in:The American journal of psychiatry 2007-11, Vol.164 (11), p.1655-1661
Main Authors: Bukelis, Irena, Porter, Forbes D., Zimmerman, Andrew W., Tierney, Elaine
Format: Article
Language:English
Subjects:
Adults
Autism
Autistic Disorder - diagnosis
Autistic Disorder - epidemiology
Autistic Disorder - physiopathology
Behavior
Biological and medical sciences
Birth weight
Cesarean section
Child
Child clinical studies
Children & youth
Cholesterol - biosynthesis
Comorbidity
Developmental disorders
Diagnosis, Differential
Diagnostic and Statistical Manual of Mental Disorders
Disorders of blood lipids. Hyperlipoproteinemia
Follow-Up Studies
Genetic disorders
Gonadal Steroid Hormones - physiology
Humans
Infantile autism
Learning disabilities
Male
Medical sciences
Metabolic diseases
Myelin Sheath - physiology
Patients
Phenotype
Psychiatric Status Rating Scales - statistics & numerical data
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Receptors, Oxytocin - physiology
Receptors, Serotonin - physiology
Smith-Lemli-Opitz Syndrome - diagnosis
Smith-Lemli-Opitz Syndrome - epidemiology
Smith-Lemli-Opitz Syndrome - physiopathology
Social interaction
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:In addition to the association of autism spectrum disorder with specific heritable disorders (e.g., fragile X syndrome, phenylketonuria, chromosome 15q11-q13 duplication, and tuberous sclerosis), evidence for a genetic contribution includes increased recurrence risk in siblings; increased concordance in monozygotic compared to dizygotic twins; and occurrence of cognitive, language, and behavioral disturbances in close relatives (1). The association of autism spectrum disorder with physical or behavioral manifestations that warrant testing for Smith-Lemli-Opitz syndrome include the following; two-to-three toe syndactyly, ptosis, soft cleft palate/bifid uvula, failure to thrive or feeding difficulties, growth retardation, postnatal onset of microcephaly, hand or foot malformation, abnormal genitalia, hypotonia, severe sleep disturbance, self-injury with biting of the wrist or the thenar eminence, opisthokinesis, or a family history of developmental disabilities with physical dysmorphology.
ISSN:0002-953X
1535-7228
DOI:10.1176/appi.ajp.2007.07020315