Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy

Verhoeven, W.M.A.; Tuinier, S.; Curfs, Leopold

doi:10.1136/jmg.40.10.e112

Cited by 54 publications

(35 citation statements)

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“…Es probable que se produzca una mayor diferencia entre los individuos con deleción y con DUP al analizar el fenotipo conductual pues se ha descrito que las característi-cas conductuales compulsivas, además de la hiperfagia e incluyendo la psicosis, son más frecuentes en individuos con DUP que en los con deleción [13][14][15][16][17] . Esta condición podría ser evaluada en otros trabajos y escapa a los objetivos de este estudio.…”

Section: Discussionunclassified

Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi

et al. 2005

Rev. méd. Chile

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Section: Discussionunclassified

Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi

et al. 2005

Rev. méd. Chile

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“…For some syndromes, such as Prader-Willi syndrome, a circumscript subset of recurrent affective/psychotic symptoms may occur, especially when the aetiology is a maternal uniparental disomy. These patients develop, starting in their late adolescence, a subacute polymorphous psychosis with a symptom profile that meets the criteria for cycloid psychosis [102][103][104][105][106]. In some cases, an increase of psychomotor symptoms dominates the psychoticsyndrome resembling catatonia [107].…”

Section: Discussionmentioning

confidence: 99%

Aetiology Based Diagnosis and Treatment Selection in Intellectually Disabled People with Challenging Behaviours

Verhoeven¹,

Egger

2014

J. Intellect. Disabl. Diagn. Treat.

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Since both intellectual disability and challenging behaviour are entities encompassing heterogeneous clinical conditions and current taxonomies are of limited use in this field of psychiatry, diagnosing psychiatric symptoms in intellectually disabled patients is still very complex. In the diagnostic process of psychiatric symptoms and behavioural abnormalities, the first step should be genome profiling using the latest techniques in order to detect pathogenic CNVs or single gene mutations that are causative for the developmental delay. Their importance can be derived from the scientific observation that several genetic syndromes are associated with a specific behavioural, psychiatric, neuropsychological or neurological symptom profile, relevant for both choice of treatment and prognosis. Second, it has to be stressed that psychiatric disorders, especially from the depression and anxiety spectrum, frequently manifest with atypical symptoms that may hamper adequate pharmacological treatment. With respect to challenging behaviours in general, it should be emphasized that these are essentially dependent on contextual variables for which no rational pharmacological treatment is available and behavioural interventions are primarily warranted. Prescription of psychotropics has been demonstrated to be marginally effective only and to induce regularly unwanted side effects or even an increase of abnormal behaviours. It is therefore recommended to measure always the plasma concentration of psychotropics and antiepileptics and to perform, preferably prior to the start of treatment, genotyping of relevant cytochrome isoenzymes.In is concluded that, apart from the a priori genetic analysis, careful investigation of the here described data sources is needed to formulate a diagnostic hypothesis and treatment proposal.

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“…15 While certain features of PWS are highly prevalent across genetic subtypes, recent research suggests that the deletion or m-UPD genetic subtypes may exhibit different risks for psychotic disorders. [16][17][18] Furthermore, they may not exhibit problem behaviors with the same frequencies or severities.…”

Section: Dovepressmentioning

confidence: 99%

“…Previous studies have shown that 6%-28% of individuals with PWS exhibited psychotic symptoms with an age of onset ranging from 13 to 26 years and a prevalence rate higher than individuals with other IDs. 18,22,39,40 Furthermore, individuals with PWS show age-related increases in internalizing problems such as anxiety, sadness, and a feeling of low selfworth. 41 Recent studies have found an association between m-UPD and psychotic illness.…”

Section: Behavior and Cognitionmentioning

confidence: 99%

“…It is particularly important to be aware that while psychosis is common in PWS, the prevalence rates are significantly higher in adults with UPD or imprinting defects. 16,18,39 Because individuals with PWS have a lower tolerance for change or hardships in the immediate environment, it is important to assess the precipitating and perpetuating factors that may be causing a change in mood before an intervention is implemented. Currently, there are few research studies published on the efficacy and use of psychotropic medications in treating psychiatric illness in the PWS population.…”

Section: Dovepressmentioning

confidence: 99%

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Clinical management of behavioral characteristics of Prader–Willi syndrome

Dimitropoulos

2010

NDT

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Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11-q13) that results in a host of phenotypic characteristics, dominated primarily by hyperphagia and insatiable appetite. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. Individuals with PWS typically have intellectual disabilities (borderline to mild/moderate mental retardation) and exhibit a higher overall behavior disturbance compared to individuals with similar intellectual disability. Due to its multisystem disorder, family members, caregivers, physicians, dieticians, and speech-language pathologists all play an important role in the management and treatment of symptoms in an individual with PWS. This article reviews current research on behavior and cognition in PWS and discusses management guidelines for this disorder.

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Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy

Cited by 54 publications

References 13 publications

Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi

Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi

Aetiology Based Diagnosis and Treatment Selection in Intellectually Disabled People with Challenging Behaviours

Clinical management of behavioral characteristics of Prader–Willi syndrome

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Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy

Cited by 54 publications

References 13 publications

Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi

Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi

Aetiology Based Diagnosis and Treatment Selection in Intellectually Disabled People with Challenging Behaviours

Clinical management of behavioral characteristics of Prader&ndash;Willi syndrome

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Clinical management of behavioral characteristics of Prader–Willi syndrome