RESUMO
Wolf-Hirschhorn syndrome (WHS) is a rare genetic condition with characteristic facial traits, organ malformations, functional impairment and developmental delay due to partial short arm monosomy of chromosome 4. Although several hundreds of cases have been published to date, a systematic collection of its clinical symptoms and anthropological traits is missing in the literature, and reports on abilities and needs of children with WHS are scanty. Results of detailed physical and developmental phenotype analyses in a 1 10/12-year-old boy with monosomy 4p15.2-pter are presented. Physical analyses were based on systematic data acquisition. They disclosed a total of 32 clinical symptoms and 46 anthropological traits. Developmental analyses were based on the child's interactive play in an environment structured according to Montessori principles. They disclosed a total of 44 abilities and a number of needs to be satisfied by the environment for the support of the child's psychic and intellectual growth. While the physical phenotype is important for the diagnostic process, the developmental phenotype is essential for parental counseling.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 4/genética , Fenótipo , Afeto , Deleção Cromossômica , Transtornos da Comunicação/complicações , Transtornos da Comunicação/genética , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/genética , Face/anormalidades , Aconselhamento Genético , Humanos , Lactente , Masculino , Monossomia/genética , Transtornos Psicomotores/complicações , Transtornos Psicomotores/genética , Crânio/anormalidades , Comportamento Social , SíndromeRESUMO
Children with unbalanced karyotypes or other genetic syndromes are generally supposed to be developmentally retarded and mentally handicapped. This has to be ascribed to defect oriented views, leading to negative valuations of their unusual physical condition including slow motor development. A new dialogue oriented view and working concept is presented. It accepts physical differences as biological facts, which primarily do not restrict brainpower. The development of intelligence, behaviour and personality depends largely on the environment. Impeding factors should be searched here and eliminated as far as possible with the aim to prevent secondary mental disability after a syndrome diagnosis. In general, children with genetic syndromes are able to understand language. Thus, they can be educated like other children. They should learn to accept rules and limits, answer questions and follow demands. Their communicative tools may be words, gestures, mimics or written language. While physical support has to be given if necessary, their principally open mind needs stimuli according to their chronological age. Normal mental capacities should be expected, unless the opposite is proven.
