People withMECP2mutation‐positive Rett disorder who converse

Journal of Intellectual Disability Research - Tập 50 Số 5 - Trang 386-394 - 2006
Alison Kerr1, Meena Balasubramanian2, Julie Evans2, R J Prescott3, Frances Gibbon4
1Department of Psychological Medicine, University of Glasgow, Gartnavel Royal Hospital, Glasgow, UK
2Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK
3Medical Statistics Unit, Edinburgh University, Edinburgh, UK
4Paediatric Neurology, University of Wales Hospital, Heath Park, Cardiff, UK

Tóm tắt

AbstractBackground People with useful speech after regression constitute a distinct group of those with mutation‐positive Rett disorder, 6% (20/331) reported among mutation‐positive people in the British Survey. We aimed to determine the physical, mental and genetic characteristics of this group and to gain insight into their experience of Rett syndrome.Methods Clinical and molecular data for people with Rett, aged 10 or more years at follow‐up (the study group,n = 13), with the ability to converse and aMECP2mutation are presented. They were compared with an age‐matched control group (n = 110), who could not converse and had a pathogenicMECP2mutation.Results The study group differed significantly from the control group with regard to their disease severity (P < 0.001); feeding difficulty scores (P < 0.001); health scores (P < 0.001); epilepsy (P < 0.001); head circumference (P < 0.004); age at onset of the regression period (P < 0.001) (six in the study group did not regress) and mutation frequency (C‐terminal deletionsP = 0.014, R133CP < 0.006). The results indicate that favourable skewing of X‐inactivation is only present in a small proportion of mild cases. Speech was fragmented with a soft, breathless quality, and all but two had obviously irregular breathing. One person with an R168X mutation preferred signing to speech. All enjoyed interpersonal contact, showing affection and preferring people to objects, clearly distinguishing the condition from autism. Most were habitually anxious. Music was a source of pleasure and relaxation also providing a valuable educational asset. Even in these most able cases, understanding was severely restricted in most and little initiative was shown.Conclusions While the Rett profile is present in these people they are commonly not classic, and the presence of speech, good head growth and lack of regression may lead to missed diagnoses. A strong association was demonstrated between this milder form of the disease and R133C and C‐terminal deletions.

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Journal of Intellectual Disability Research

Tập 50 Số 5

386-394

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