Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment

• Published in: American journal of medical genetics. Part B, Neuropsychiatric genetics Vol. 159B; no. 1; pp. 13 - 20
• Main Authors: Green, Tamar, Avda, Sarit, Dotan, Inbar, Zarchi, Omer, Basel-Vanagaite, Lina, Zalsman, Gil, Weizman, Abraham, Gothelf, Doron
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.01.2012; Wiley-Liss; Wiley Subscription Services, Inc
• Subjects: ADHD; Adolescent; Adolescents; Adult and adolescent clinical studies; Anxiety; anxiety disorders; Anxiety disorders. Neuroses; Attention Deficit Disorder with Hyperactivity - complications; Attention Deficit Disorder with Hyperactivity - drug therapy; Attention deficit hyperactivity disorder; Behavior disorders; Biological and medical sciences; Case-Control Studies; Central Nervous System Stimulants - pharmacology; Central Nervous System Stimulants - therapeutic use; Child; Children; Chromosome aberrations; Cognitive ability; Developmental disabilities; Developmental Disabilities - complications; Developmental Disabilities - psychology; Female; Genetics; Humans; Longitudinal Studies; Male; Medical genetics; Medical sciences; Mental disorders; Methylphenidate; Methylphenidate - pharmacology; Methylphenidate - therapeutic use; Obsessive-Compulsive Disorder - complications; Obsessive-compulsive disorders; obsessive-compulsive symptoms; Phenotype; Phenotypes; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Serotonin Uptake Inhibitors - pharmacology; Serotonin Uptake Inhibitors - therapeutic use; Stereotyped Behavior - drug effects; Williams syndrome; Williams Syndrome - complications; Williams Syndrome - drug therapy; Williams Syndrome - psychology; Chromosomal aberration; Human; obsessive-compulsive symptoms; Obsessive compulsive disorder; ADHD; CNS stimulant; Psychotropic; Anxiety disorder; anxiety disorders; Williams syndrome; Characterization; Response; Symptomatology; Phenotype; Treatment; Piperidine derivatives; Child; Methylphenidate
• ISSN: 1552-4841; 1552-485X; 1552-485X
• DOI: 10.1002/ajmg.b.31247

Williams syndrome (WS) is associated with cognitive deficits, special behavioral phenotype, and high rates of psychiatric disorders. The aims of the present study were: (1) To compare the rates of psychiatric disorders and repetitive behaviors in children with WS to children with idiopathic developmental disability (DDs); (2) To longitudinally assess the change in psychiatric disorders during adolescence in WS; (3) To assess retrospectively the effectiveness and safety of methylphenidate (MPH) treatment in WS children with ADHD. The study consisted of a cohort of 38 children and adolescents (age 13.1 ± 5.2 years) with WS and a sample of age‐matched DDs (age 15.0 ± 3.1 years). A current follow‐up evaluation was conducted after 5.6 ± 1.6 years for 25 subjects (65.8%) of the WS cohort. The rate of most psychiatric disorders was found similar in children with WS and DD controls. Specific phobia, especially from noises, obsessive–compulsive symptoms (e.g., aggressive obsessions and repetitive questions), and stereotypic behaviors (e.g., glancing), were more common in WS than DDs. In a longitudinal follow‐up of the WS children, we found a decrease in the rate of anxiety disorders. In addition, a clinically significant improvement was reported in 72.2% of WS children with ADHD following MPH treatment. Sadness/unhappiness was the most common side effect associated with MPH treatment in WS, occurring in 2/3 of treated individuals. The present study further elucidates the neuropsychiatric phenotype of WS. Our results also suggest that MPH treatment for ADHD in WS warrants future prospective controlled trials. © 2011 Wiley Periodicals, Inc.