Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates

Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates

Hecht J T; Thompson N M; Weir T; Patchell L; Horton W A

American Journal of Medical Genetics

1991

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.

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