Rehabilitative Solutions for Promoting Independence and Self-Determination of Children with Cornelia de Lange Syndrome
Journal: International Journal of Behavioral Research & Psychology (IJBRP) (Vol.05, No. e)Publication Date: 2017-01-05
Authors : Stasolla F; Perilli V;
Page : 1-2
Keywords : growth delays; behavioral abnormalities; both hands and feet problems;
Abstract
Cornelia de Lange syndrome (CdL) is a congenital disorder characterized by multiple disabilities. It includes growth delays, behavioral abnormalities, both hands and feet problems, intellectual difficulties, autistic features, stereotypic movements, language deficits, self-injuries [1, 2]. Although there is a substantial variance in its phenotype, the majority of CdL individuals are socially, communicatively and cognitively impaired, ranging between the moderate and the profound level of developmental disabilities [3]. Microcephaly, highly arched eyebrows, long and thick eyelashes, short neck, hirsute ears with thickened helices, small widely-spaced teeth, arched palate with clefts, downturned mouth corners are physical traits commonly described [4]. The diagnosis is usually based upon clinical grounds. Specifically, positive mutation on CdL gene testing or facial findings and meet-criteria such as development and behavior basic points (e.g., learning difficulties, attention deficits hyperactivity disorders, anxiety, withdrawal, impulsive behavior, roaming, obsessivecompulsive features) should be considered
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Last modified: 2017-05-30 19:09:33