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Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome
- Source :
- Mental Retardation and Developmental Disabilities Research Reviews. 6:131-134
- Publication Year :
- 2000
- Publisher :
- Wiley, 2000.
-
Abstract
- Smith-Lemli-Opitz syndrome (SLOS, RSH/SLO syndrome, MIM 270400) is an autosomal recessive multiple malformation/mental retardation syndrome initially described by Smith et al. [1964] that is due to a defect in cholesterol biosynthesis. The behavioral phenotype of Smith-Lemli-Opitz syndrome demonstrates cognitive abilities from borderline intellectual functioning to profound mental retardation, sensory hyperreactivity, irritability, language impairment, sleep cycle disturbance, self-injurious behavior, and autism spectrum behaviors. In a recent study of 28 subjects, 14 subjects (50%) with SLOS also exhibited the behavior of throwing themselves backward in a characteristic upper body movement ("opisthokinesis") and 2 adolescents had a stretching motion of the upper body accompanied by hand flicking [Tierney et al., 1999]. In that same study, 6 of 13 subjects (46%) met the Autism Diagnostic Interview-Revised (ADI-R) algorithm criteria (Lord et al. [1993] Infant Mental Health 14:234-252; Lord et al. [1994] J Autism Dev Disord 24:659-685) and the Diagnostic and Statistical Manual (APA [1994] DSM-IV) diagnostic criteria for autistic disorder. Smith-Lemli-Opitz syndrome is a metabolic disorder that is associated with autism. MRDD Research Reviews 2000;6:131-134.
- Subjects :
- medicine.medical_specialty
Infant mental health
Metabolic disorder
Genetic disorder
Cognition
Irritability
medicine.disease
Neuropsychology and Physiological Psychology
Borderline intellectual functioning
Smith–Lemli–Opitz syndrome
Pediatrics, Perinatology and Child Health
medicine
Autism
medicine.symptom
Psychiatry
Psychology
Genetics (clinical)
Clinical psychology
Subjects
Details
- ISSN :
- 10982779 and 10804013
- Volume :
- 6
- Database :
- OpenAIRE
- Journal :
- Mental Retardation and Developmental Disabilities Research Reviews
- Accession number :
- edsair.doi...........8b4b7186e527652e150103aef6ab68c6