Journal of intellectual disability research : JIDR
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J Intellect Disabil Res · Sep 2013
The impact of Prader-Willi syndrome on the family's quality of life and caregiving, and the unaffected siblings' psychosocial adjustment.
Prader-Willi syndrome (PWS), a complex multisystem genetic disorder, is characterised by developmental abnormalities leading to somatic and psychological symptoms. Symptoms of PWS include infantile hypotonia and failure-to-thrive, followed by life-long hyperphagia, developmental delays and moderate-to-severe behavioural problems and several physical problems that impact health. This study examined the effects of caring for a child diagnosed with PWS on the mothers and unaffected siblings. We assessed overall family functioning, the mothers' psychological health, the psychosocial and behavioural functioning of siblings, and the quality of life of siblings. ⋯ This study reaffirms that PWS affects the entire family system. Mothers and siblings would benefit from psychosocial support due to the multiple challenges of living with and caring for a child/young adult with PWS.
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J Intellect Disabil Res · Sep 2013
Neuropsychological profile in adults with neurofibromatosis type 1 compared to a control group.
Neurofibromatosis type 1 (NF1) is a common inherited autosomal dominant condition, characterised by multiple café-au-lait macules, axillary and/or inguinal freckling, iris Lisch nodules and tumours of the nervous system such as neurofibromas and optic pathway gliomas. At the same time, NF1 is frequently associated with intellectual disabilities across several neuropsychological domains. Existing neuropsychological data in NF1 adults are limited and sometimes contradictory. Moreover, most studies use a non-IQ-controlled norm group for comparison. This study sought to investigate specific neuropsychological characteristics in intellectual abilities unrelated to the global intellectual capacity. ⋯ Taking into account that primary visual perception problems could be part of a more general central coherence deficit while interpreting auditory memory problems as possibly related to deficits in language use and comprehension, this idea also fits with the observation of several problems in social information processing and functioning of NF1 persons.