Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates
Brain/pathology; Male; Electroencephalography; Humans; Prospective Studies; Female; Child Preschool; Infant; Neuropsychological Tests; Psychomotor Performance; Intelligence; Atrophy; Achondroplasia/complications/physiopathology/psychology; Evoked Potentials Somatosensory; Intellectual Disability/etiology; Respiration Disorders/etiology/physiopathology; Sleep Apnea Syndromes/etiology/physiopathology; sleep disturbance; tone and motor problems; achondroplasia; trajectory; characteristics; respiratory dysfunction
Thirteen infants with achondroplasia underwent psychometric testing as part of a comprehensive neurologic assessment. As a group, mental development was average and motor development was delayed, although a wide range of scores was obtained. Foramen magnum measurements were correlated with respiratory dysfunction, abnormal somatosensory evoked potentials, and delayed motor development. Abnormal polysomnogram outcome was associated with reduced mental capacity. In light of the reported increased frequency of respiratory dysfunction in achondroplasia, these findings warrant careful attention and further study.
Hecht J T; Thompson N M; Weir T; Patchell L; Horton W A
American Journal of Medical Genetics
1991
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ajmg.1320410215" target="_blank" rel="noreferrer noopener">10.1002/ajmg.1320410215</a>
Sixty-four patients with Brachmann-de Lange syndrome: a survey
Male; Surveys and Questionnaires; Child; Humans; Female; Psychomotor Performance; Birth Weight; De Lange Syndrome/etiology/genetics/physiopathology; behavioral problems; breathing difficulties; feeding difficulties; De Lange syndrome; trajectory; characteristics; respiratory tract symptoms
We surveyed 64 individuals with the diagnosis of Brachmann-de Lange syndrome (BDLS) to determine the natural course and cause of the disorder. The 64 individuals were ascertained through membership in a national organization, the Cornelia de Lange Syndrome (CDLS) Foundation, comprised of families who have a relative with BDLS. We surveyed 64 families by questionnaire and personally examined 24 of the 64. Our data suggest that lower birth weight correlates with a more severe phenotype, specifically including severe upper limb malformations and greater psychomotor retardation. The lower birth weight group showed a significant excess of females. The miscarriage rate was normal and there were no recurrences reported in the 64 families we surveyed. Major management problems included feeding problems and projectile vomiting, behavioral problems including frequent tantrums, hearing and dental difficulties, and recurrent respiratory tract infections. The oldest, teenaged subjects in our study entered puberty; although pregnancy has not been reported in the syndrome, it is likely that people with BDLS are fertile. Though most BDLS children reared at home survive through adolescence, a significant degree of psychomotor retardation and difficult medical management problems still occur.
Hawley P P; Jackson L G; Kurnit D M
American Journal of Medical Genetics
1985
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ajmg.1320200306" target="_blank" rel="noreferrer noopener">10.1002/ajmg.1320200306</a>
Functional electrical stimulation therapy for recovery of reaching and grasping in severe chronic pediatric stroke patients
Child; Female; Humans; Male; Pediatrics; Chronic disease; Treatment Outcome; Severity of Illness Index; Disability Evaluation; Articular; Range of Motion; Recovery of Function; Chronic; Electric Stimulation Therapy; functional electrical stimulation therapy; grasping; Hand Strength; Psychomotor Performance; severe; Stroke; Upper Extremity
Stroke affects 2.7 children per 100,000 annually, leaving many of them with lifelong residual impairments despite intensive rehabilitation. In the present study the authors evaluated the effectiveness of 48 hours of transcutaneous functional electrical stimulation therapy for retraining voluntary reaching and grasping in 4 severe chronic pediatric stroke participants. Participants were assessed using the Rehabilitation Engineering Laboratory Hand Function Test, Quality of Upper Extremity Skills Test, Pediatric Evaluation of Disability Inventory, and Assisting Hand Assessment. All participants improved on all measures. The average change scores on selected Rehabilitation Engineering Laboratory Hand Function Test components were 14.5 for object manipulation (P = .042), 0.78 Nm for instrumented cylinder (P = .068), and 14 for wooden blocks (P = .068) and on the grasp component of Quality of Upper Extremity Skills Test was 25.93 (P = .068). These results provide preliminary evidence that functional electrical stimulation therapy has the potential to improve upper limb function in severe chronic pediatric stroke patients.
2014-04
Kapadia Naaz M; Nagai MK; Zivanovic V; Bernstein J; Woodhouse J; Rumney P; Popovic MR
Journal Of Child Neurology
2014
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1177/0883073813484088" target="_blank" rel="noreferrer">10.1177/0883073813484088</a>