W01-04 - Psychopathology in Rare Genetic Disorders

Abstract

Introduction:

Deinstitutionalization of psychiatric patients and people with intellectual disabilities has markedly increased the number of referrals of patients with behavioural disturbances and/or psychiatric to outpatient psychiatrist, frequently because of’treatment resistant’ psychiatric syndromes. Given the rapidly growing knowledge of clinical and molecular genetics, co-occurrence of psychological and behavioural dysfunctions with a chromosomal anomaly in an individual patient greatly increases the possibilities for an etiological explanation of the clinical picture, which in turn may serve as guidance for a specific treatment.

Objectives:

To elucidate the phenotype-genotype relation in patients with unexplained behavioural problems.

Aims:

To advocate the clinical awareness of so called behavioural phenotype.

Methods:

Detailed presentation of some cases (diagnosis and treatment) that are referred to the outpatient department for neuropsychiatry and who are published by the research group’Psychopathology and Genetics’.

Results:

Female (25yrs;IQ:50), reason of referral: psychotic disorder. D/anxieties due to overestimation; de novo duplication 13(q14.1q21.3). Female (30yrs;IQ:< 60) referred for psychotic and autistic symptoms. D/cognitive alexithymia; de novo r21. Female (17yrs;IQ:81), referred for difficulties in school performance. D/panic disorder; distal 22q11 microdeletion. Male (57yrs;IQ:128), reason of referral: treatment resistant depression. D/no psychopathology; Robertsonian translocation 13;14. Female (57yrs;IQ< 60), referred presenile dementia. D/mucopolysaccharidosis SanfilippoB. Male (21yrs;IQ:52). Referred for mood instability. History: XXY. D/atypical bipolar disorder; PWS + XXY.

Conclusions:

In patients referred for recurrent challenging behaviours and/or psychiatric symptoms the search for a genetic etiology is mandatory in order to avoid erratic treatment advises.