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Lesch–Nyhan disease and variants
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
A quite different phenotype is what we have called the neurologic variant [32]. This picture, which has been observed in a small but important group of patients, is characterized by a neurologic examination that is identical to that of the classic Lesch–Nyhan patient. These patients are generally diagnosed as having cerebral palsy or athetoid cerebral palsy. They are confined to wheelchairs and unable to walk. The index patient was reported by Catel and Schmidt [32], as a patient with the Lesch–Nyhan syndrome in whom intelligence and behavior were normal. He has since been followed by Manzke and colleagues [33], and we had the opportunity to study him just after his graduation from university (Figure 65.17). He spoke English and German. There were no abnormalities of intelligence or behavior. His variant HPRT was zero in erythrocyte lysates, but activity was readily distinguished from Lesch–Nyhan disease by the intact cell assay [34]. Activity approached 10 percent of control, and there was enough activity to permit kinetic studies [35]. A maternal uncle had had a similar syndrome. Other patients have since been studied in whom variant enzymes have produced this phenotype [36, 37]. Behavior is normal and intelligence is normal or nearly normal.
Neurology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Fenella Kirkham, Adnan Manzur, Stephanie Robb
Cerebral palsy, epilepsy, hydrocephalus, cervical cord damage (causes deteriorating pyramidal function) or vertebrobasilar dissection (causes recurrent strokes) in athetoid cerebral palsy with constant head movement.
Neurological disorders
Published in Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize, Developmental and Adapted Physical Education, 2019
Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize
For both spastic and athetoid cerebral palsy, relaxation and tension-reduction activities can be beneficial. In spasticity, relaxation may counteract tight muscle groups, whereas in athetoid, the constant muscle contractions may be controlled or quieted with stress-reduction and relaxation techniques.
Activity training on the ground in children with cerebral palsy: Systematic review and meta-analysis
Published in Physiotherapy Theory and Practice, 2019
Theofani Bania, Hsiu-Ching Chiu, Evdokia Billis
Most studies had small samples (8–30 participants), except for one study (Bar-Haim et al., 2010) that had a relatively large sample (78 participants). The majority of studies included young children up to 10–12 years old, while three studies also included older children, up to 18 years old. The majority of participants had spastic diplegic cerebral palsy, while some studies also included children with spastic hemiplegic and/or quadriplegic cerebral palsy (n = 5) or ataxic/athetoid cerebral palsy (n = 2). One study did not report the type of cerebral palsy. The GMFCS levels of participants ranged I–III in five studies, II–III in two studies, I–II in one study, and GMFCS levels were not reported in one study (Table 2).
Experience of families in accessing government-led support for children with disabilities in Bangladesh
Published in Disability and Rehabilitation, 2022
Reshma Parvin Nuri, Heather Michelle Aldersey, Setareh Ghahari, Ahmed Shafiqul Huque
I took physiotherapy services for my child with a disability from the government-led support center in our community for two years. The services were nice. However, there was no occupational therapist and speech and language therapist. That’s why I came to … [name of the private organization] for these services. I am living here [close to the private rehabilitation center] with my child with a disability for two years. My husband is having difficulties in taking leave from his work to make the long trek to Dhaka [capital of Bangladesh]. [Mother of a child with athetoid cerebral palsy]