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Family History

In motor or other developmental disabilities, a detailed family history must be obtained to rule out the pos­sibility of an inheritable genetic disease. Health and function of the parents, siblings, and other family members on the maternal and paternal sides should be explored through several preceding generations.

One should ask specifically whether there are other children in the family with developmental delay or adults with known motor disability, limb deficiency, or other malformations. Historical information is at times incomplete until further questioning brings to light additional facts. Family albums and pictures of relatives may be helpful to detect dysmorphic facial or other features. Consanguinity is an increased risk for genetic disease, including diseases with a recessive autosomal inheritance pattern. In some autosomal- dominant conditions, mild variants of a disease may be missed until a thorough investigation of suspected family members is carried out. Congenital myotonic dystrophy and facioscapulohumeral dystrophy are examples. Affected males with familial history on the maternal side are typical of X-linked conditions. Multifactorial inheritance, such as spina bifida, creates a complex situation, with or without known familial history (2,7). Referral for genetic workup is neces­sary whenever a genetic condition is known or sus­pected. Pregnant mothers of affected children should be referred for genetic counseling; prenatal diagnostic tests for detection are also available.

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Source: Alexander M.A., Matthews D.J.. Pediatric Rehabilitation: Principles and Practice. 4 th. åd. — New York: Demos Medical Publishing,2010. — 540 ð.. 2010
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