ABSTRACT
OBJECTIVE: The aim and objective of this study was to assess the knowledge and views of parents on transitional and adolescent care in young adults with epilepsy, and to develop a transitional and adolescent program for epilepsy. METHODS: Data were collected from questionnaires completed by parents during focus groups exploring transitional care and inherent issues for young adults, aged 12-18years, with epilepsy. The questionnaire assessed the current knowledge and views of parents of children with epilepsy on transitional care, and following a presentation on "Transition in Epilepsy" (including themes such as self-advocacy, independent healthcare behavior, sexual health, psychosocial support, educational and vocational planning, health and lifestyle issues) assessed feedback on the proposed model of care in transitional and adolescent care. RESULTS: Data were collected from 34 parents; the majority of parents, 74% (n=25), wish their children to be transitioned and transferred over to the adult epilepsy sites at the age of 18years. Over 82% (n=28) of parents believe the concept of transition should be introduced between the ages of 12-16years. CONCLUSION: This quality improvement initiative identified the need for transitional care to begin at an early age. This study engaged parents in a process to improve adolescent and transitional care for adolescents with epilepsy. This study also highlights the importance of introducing a detailed preparatory phase for a transitional and adolescent care in epilepsy.
Subject(s)
Delivery of Health Care/methods , Epilepsy/drug therapy , Health Knowledge, Attitudes, Practice , Quality Improvement , Quality of Health Care/standards , Transition to Adult Care/standards , Adolescent , Adult , Attitude of Health Personnel , Child , Female , Health Services Accessibility , Humans , Male , Parents/psychology , Patient Satisfaction , Surveys and Questionnaires , Transition to Adult Care/organization & administration , Young AdultSubject(s)
Brain/physiopathology , Cognition Disorders/etiology , Myoclonic Epilepsies, Progressive/diagnosis , Adolescent , Cognition , Cognition Disorders/physiopathology , Electroencephalography , Female , Humans , Myoclonic Epilepsies, Progressive/complications , Myoclonic Epilepsies, Progressive/physiopathology , Neuropsychological TestsABSTRACT
Hyperkinetic dystonia is characterized by phasic, tremulous, and "jerky" movements in addition to twisting postures. We studied longitudinally 23 index patients with hyperkinetic dystonia from a quaternary pediatric movement disorder clinic in Ireland. Four clinical categories emerged: (1) Eight patients were diagnosed with myoclonus-dystonia, of whom seven carried heterozygous epsilon sarcoglycan (SGCE) mutations, including a novel deletion of exon 10. Gait disorder, unsteadiness, or frequent falls before 18 months were detected in all SGCE mutation carriers, whereas the typical neck-predominant presentation developed only years later. (2) One patient classified as benign hereditary chorea, because jerks were choreiform and continuous rather than action-induced, carried a heterozygous stop mutation of the TITF-1 gene (Y114X, exon 2). (3) Three mutation-negative patients were grouped as "myoclonic dystonia" with jerks only in the body regions affected by dystonia. (4) Eleven patients presented with a novel combination of dystonia and low amplitude poly-mini myoclonus of the upper limbs and pectoral muscles (D-PMM). In early childhood up to 3 years of age, an initial presentation with predominant gait impairment with only subtle jerks should prompt consideration of SGCE mutation analysis in addition to testing for DYT1 mutations. A causative gene for D-PMM remains to be identified.
Subject(s)
Dystonia/complications , Dystonia/genetics , Hyperkinesis/complications , Hyperkinesis/genetics , Phenotype , Sarcoglycans/genetics , Adolescent , Adult , Age of Onset , Anticonvulsants/therapeutic use , Antiparkinson Agents/therapeutic use , Child , Child, Preschool , DNA Mutational Analysis , Dystonia/diagnosis , Dystonia/drug therapy , Exons , Female , Genetic Testing , Genotype , Humans , Hyperkinesis/diagnosis , Hyperkinesis/drug therapy , Levodopa/therapeutic use , Longitudinal Studies , Male , Middle Aged , Muscle, Skeletal/physiopathology , Mutation/genetics , Myoclonus/genetics , Myoclonus/physiopathology , Nuclear Proteins/genetics , Severity of Illness Index , Thyroid Nuclear Factor 1 , Transcription Factors/genetics , Tyrosine/genetics , Young AdultABSTRACT
A subgroup of autosomal recessive cerebellar ataxias (ARCAs) associated with oculomotor apraxia (OMA) and other variable features has been reported. Ataxia-oculomotor apraxia types 1 and 2 (AOA1 and AOA2) belong to this subgroup and have been described in adults with early onset cerebellar ataxia. AOA1 is associated with oculomotor apraxia, severe sensorimotor neuropathy, choreiform movements, cognitive impairment, and cerebellar atrophy at an early age. We describe a male child with AOA1 who is homozygous for the G837A (W279X) mutation in the APTX gene. He presented at the age of 3 years 6 months with some atypical features including absence of OMA, chorea, and cerebellar atrophy. These manifestations, in addition to peripheral neuropathy, appeared at 8 years of age. We highlight the importance of considering the diagnosis of AOA1 in children with early-onset cerebellar ataxia, once other well-known disorders such as Friedreich's ataxia and ataxia-telangiectasia have been excluded.
