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In the present study we investigated the co‐morbidity of pervasive developmental disorder (PDD) in 59 Prader–Willi syndrome (PWS) individuals and in 59 non‐specific mentally retarded controls, matched for IQ, gender, and age. The ‘Pervasive Developmental Disorder Mentally Retardation Scale’ (PDD‐MRScale), a screening questionnaire based on the DSM‐III‐R criteria for PDD, has been applied in the PWS group and in the control group. Results of the present study revealed a striking autistic‐like behavioral phenotype in the majority of the PWS individuals, particularly deficits in the quality of language and communication and of imagination and interests. This intersection with autistic symptomatology is an important addition to the behavioral phenotype in PWS persons. A first approach to delineate subtypes of autistic symptomalogy among PWS persons was performed. Nineteen percent of the PWS group did meet the full diagnostic DSM‐III‐R criteria for PDD in comparison with 15% in the control group. Results revealed that a higher IQ in PWS does not protect to develop genuine PDD and that uniparental disomy/imprinting mutation as genetic origin seems to be an additional risk factor for developing genuine PDD. The results of the present study suggest the importance of reconsidering the commonly recognized obsessive‐compulsive like behavior in PWS persons within the broader spectrum of autism disorders. © 2006 Wiley‐Liss, Inc.

The Prader–Willi syndrome (PWS) is a genetically determined developmental disorder caused by abnormalities of the proximal region of chromosome 15q11-13. In a previous study, we reported that psychotic episodes, occurring in 16% of persons with PWS, had an onset in adolescence, never occurred in persons with paternal deletion, and were exclusively associated with maternal uniparental disomy (UPD) or imprinting abnormalities (IM). In order to gain a better understanding of the psychopathology and to further refine the psychiatric diagnosis, we describe in more detail the psychopathological manifestations of six adults with a history of psychotic episodes. All these individuals had a detailed psychiatric examination, including the use of the operational criteria (OPCRIT) checklist. An identifiable subtype of psychotic disorder was associated with PWS. Characteristics include early age of onset, acute onset, polymorphous, and shifting symptomatology and a need for psychiatric hospitalization. The presence of precipitating stress factors and a prodromal phase with physiological symptoms was reported in all patients. Current diagnostic categories do not allow an unequivocal psychiatric diagnosis. © 2004 Wiley-Liss, Inc.

The personality profile of 44 youngsters (24 males, 20 females; mean age 11 years, 3 months) with neurofibromatosis type 1 (NF1) was compared with a group of 220 non-NF1 control youngsters (matched on age and gender). Personality characteristics of each youngster were rated by both parents, using the California Child Q-set (CCQ); [Block and Block, 1980]. The scores on eight personality dimensions were compared, i.e., Extraversion, Agreeableness, Conscientiousness, Emotional Stability, Openness, Motor Activity, Irritability, and Dependency. Moreover, personality of NF1 youngsters was related to IQ level, severity of medical problems, the presence or absence of visible cosmetic disfigurements, and de novo versus familial origin of NF1. The personality profile of NF1 youngsters was markedly different from the non-NF1 youngsters. Compared to the 220 control children, they were equally agreeable, but less conscientious, less emotionally stable, less open for new experience, with less motor activity, and more extravert, more dependent, and more irritable. Personality characteristics were similar for children with maternally or paternally inherited NF1, or for children with a new mutation. There was no association with gender, the severity of medical and cosmetic problems, and IQ. © 2003 Wiley-Liss, Inc.

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