Síndrome do X frágil: estudo caso-controle envolvendo pacientes pré e pós-puberais com diagnóstico confirmado por análise molecular

Abstract

RESUMO -A síndrome do X frágil é a causa mais comum de retardo mental herdado; entretanto, é subdiagnosticada na população pediátrica. Objetivamos, neste estudo, determinar as características clínicas pré e pós-puberais mais significativas observadas entre indivíduos que apresentam a mutação no gene FMR-1, e que possam ser utilizadas como método de triagem dos pacientes que devem ser submetidos à análise molecular. A partir de protocolo clínico-laboratorial, foram analisados 104 indivíduos (92 do gênero masculino e 12 do feminino) portadores de retardo mental idiopático. 17 pacientes (14 do gênero masculino) apresentaram a mutação completa. História familiar de retardo mental e contato ocular pobre foram os achados que se mostraram associados, de forma estatisticamente significante (p<0,05), aos pacientes com a síndrome do X frágil em idade pré e pós-puberal. Os pacientes em idade pós-puberal também diferiram dos controles em relação à presença de orelhas grandes, fronte proeminente e macroorquidismo.PALAVRAS-CHAVE: síndrome do X frágil, retardo mental, FMR-1.Fragile X syndrome confirmed by molecular analysis: a case-control study with pre and post-puberal patients ABSTRACT -The fragile X syndrome (FRAXA) is the most common cause of inherited mental retardation. However, it has been frequently underdiagnosed in pediatric population. The characterization of the most significant pre and post-puberal clinical features observed among patients that are positive for the FMR-1 mutation, is useful as a screening tool for ordering the DNA test. Therefore, a screening program for FRAXA has been conducted in a sample of 104 mentally retarded individuals (92 males and 12 females), comprehending familial history and physical examination in order to determine the clinical characteristics. The molecular test for the disease was performed in all individuals. Seventeen patients (14 males) were positive for the FMR-1 mutation. Familial mental retardation and poor eye contact were the most common clinical findings with statistical significance (p<0.05) in FRAXA pre and post-puberal patients. The post-puberal patients presented, as opposed to the control group, large ears, broad forehead and macroorchidism.

Retardo mental

“…29 Physical examination shows prominent ears and a long thin face (Figure 4), relative macrocephaly, hyperextensible joints and, usually after puberty, macroorchidism. 53,54 Other symptoms also include hyperactivity, hand flapping and autistic behavior, 29 the latter of which affects 25% of patients. 8 Figure 3 -A six-year-old boy with tuberous sclerosis (diagnosis was suspected based on the leaf-shaped hypopigmented macules on the posterior surface of his thigh).…”

Fragile X checklists: A meta‐analysis and development of a simplified universal clinical checklist

“…Table 1 summarizes the characteristics of included studies. It shows that six studies were from North America and Europe (Arvio, Peippo, & Simola, 1997;Bellavance & Morin, 2017;Butler, Brunschwig, Miller, & Hagerman, 1992;Hagerman et al, 1991;Lachiewicz, Dawson, & Spiridigliozzi, 2000;de Vries, Halley, Oostra, & Niermeijer, 1998), two from South to Central Asia (Guruju et al, 2009;Kanwal et al, 2015), two from Latin America and the Caribbean (Boy, Correia, Llerena, Machado-Ferreira, & Pimentel, 2001;Christofolini et al, 2009), and one from Africa (Behery, 2008). We did come across two interesting fragile X syndrome studies from Sub-Saharan Africa, but none of them met the criteria to be included in this study (Essop & Krause, 2013;Peprah, Allen, Williams, Woodard, & Sherman, 2010).…”

Características físicas e bucais na síndrome do X frágil – revisão de literatura

“…Considerações acerca do atendimento odontológico de pacientes portadores da síndrome do X frágil O diagnóstico acurado pode aliviar a incerteza e a angústia dos pais em relação à deficiência. Mesmo na ausência de tratamento específico, o diagnóstico precoce provê oportunidade para intervenção educacional e terapêutica precoces 17 .…”