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1.
Am J Med Genet A ; 179(8): 1525-1530, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31187941

RESUMO

Skin picking (SP) disorder is characterized by recurrent SP resulting in skin lesions. Several studies estimated its prevalence as approximately 2-4 % of the general population. It is also present in a high percentage of patients with intellectual and developmental disabilities, such as Cri du chat (CdC) syndrome, a rare genetic disorder caused by variable size deletions of the short arm of chromosome 5. The aim of this study was to evaluate, in 97 patients with CdC syndrome, the following data: frequency of SP, patient's age at onset, type, and topographic-anatomic distribution of the lesions presented. The results show that 85% of patients confirm a SP disorder, usually concentrated on the hands, fingers, and the face, with onset between 6 and 10 years of age, regardless of patient's sex. Evidence for early appearance of SP behavior, high prevalence in stressful circumstances, and efficacy of distracting actions immediately suggest the possibility that proper parental information about SP behavior and parental education concerning the methods to deal with this problem may result in its efficient reduction already in childhood.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 5 , Síndrome de Cri-du-Chat/diagnóstico , Transtorno Obsessivo-Compulsivo/diagnóstico , Estresse Psicológico/diagnóstico , Adolescente , Adulto , Distribuição por Idade , Idade de Início , Criança , Pré-Escolar , Síndrome de Cri-du-Chat/epidemiologia , Síndrome de Cri-du-Chat/genética , Síndrome de Cri-du-Chat/fisiopatologia , Feminino , Humanos , Lactente , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Transtorno Obsessivo-Compulsivo/epidemiologia , Transtorno Obsessivo-Compulsivo/genética , Transtorno Obsessivo-Compulsivo/fisiopatologia , Pele/lesões , Espanha/epidemiologia , Estresse Psicológico/epidemiologia , Estresse Psicológico/genética , Estresse Psicológico/fisiopatologia , Inquéritos e Questionários
2.
ScientificWorldJournal ; 2016: 3125283, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28004033

RESUMO

The Cri du Chat syndrome (CdC) is a rare genetic disorder caused by variable size deletions of the short arm of chromosome 5 (5p-). It is well known that home-reared patients show better performances as compared to institutionalised cases, and it was reported that continuous educational intervention can ameliorate their performances. To assess the efficacy of educational intervention and to develop new CdC oriented programs of rehabilitation, we compare the results obtained for many developmental skills in two groups of CdC patients undergoing two different rehabilitation programs. Using data on the development of a group of CdC patients obtained by validated Italian translation for the Denver Developmental Screening Test II, we compared a group of 13 patients undergoing an educational program developed for CdC patients, the Mayer Project (MP), with a second group of 15 cases in whom caring was not specifically oriented. A positive impact of the MP was reported by parents, observing an improvement in social skills obtained, even if no significant differences were observed when the items of the Denver Test are studied. The need for personalized care in CdC patients and the choice of different methods to compare the results are also discussed.


Assuntos
Síndrome de Cri-du-Chat/fisiopatologia , Síndrome de Cri-du-Chat/reabilitação , Desempenho Psicomotor , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Itália , Masculino
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