Psychiatric disorders in adults with Rubinstein-Taybi syndrome

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:133630

Reid, C S; Levitas, A S ^[1]

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1. Univ. of Medicine and Dentistry of New Jersey, Camden, NJ (United States)

Rubinstein-Taybi syndrome (RTS) is a multiple anomaly/mental retardation syndrome currently mapped to 16p13.3 and characterized by microephaly, hypertelorism, downslanting palpebral fissures, curved nose, elongated nasal columelia and broad thumbs and great toes, often with medial or lateral angulation. Although there are reports of attentional problems and impulsivity among children with RTS there have been no studies to date of behavioral characteristics of the syndrome. Since 1988 we have identified 7 adults with classic RTS and psychiatric disorders among 1500 mentally retarded individuals ascertained primarily for behavioral and psychiatric problems; these patients all had microcephaly, characteristic facies and broad halluces, frequently with angulation. An additional 6 adults with psychiatric disorders had some features suggesting RTS but not classic for the disorder; these patients had microcephaly, characteristic nasal configuration and somewhat broad thumbs but lacked hypertelorism, downslant of palpebral fissures, angulation of halluces, and/or other dysmorphic features typical of classic RTS. Among the seven with classic RTS, three had tic disorder and/or Obsessive Compulsive Disorder, one had Bipolar Disorder with Psychotic Features and one had Major Depressive Disorder with obsessive-compulsive features. The six with some RTS features had similar psychiatric disorders. All patients were extremely sensitive to side effects of antidopaminergic medication, with the exception of clozapine. This clustering of psychiatric disorders and sensitivity suggests possible dysfunction of dopaminergic and serotonergic systems in at least some patients with RTS. The 16p13.3 region should be examined for possible genes affecting metabolism or receptors of these neurotransmitters.

• OSTI ID: 133630
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BEHAVIOR
CONGENITAL MALFORMATIONS
DOPAMINE
GENES
GENETIC MAPPING
HUMAN CHROMOSOME 16
MENTAL DISORDERS
METABOLISM
NEUROREGULATORS
PATIENTS
RECEPTORS
SEROTONIN