Cognitive skills in achondroplasia

Abstract

Increased intracranial pressure and ventricular and subarachnoidal dilatation are common manifestations in achondroplasia. They rarely lead to major neurologic and/or psychomotor deficits and neurosurgical intervention is seldom needed. The present study was undertaken to detect signs of minor cerebral dysfunction and discuss possibilities of their prevention. Thirty children with achondroplasia were compared to 3 control groups: their next- born sibs, 30 children with other forms of dwarfism, and 30 children with normal height. Early development was assessed by means of questionnaires. Cognitive skills were evaluated with the German version of the Cognitive Abilities Test and the Lorge-Thorndike Intelligence Test. Personality data were tested using standardized neuroticism, extraversion, and anxiety scales. Children with achondroplasia had more frequent histories of delayed motor development, retarded speech development, and lower school grades in language-related specialties. Psychometric testing disclosed total and subtest scores in the population-based normal range. In comparison with their sibs and matched controls children with achondroplasia had significantly lower total scores mainly caused by low scores in the subtest 'verbal comprehension.' We conclude that verbal comprehension is significantly impaired in children with achondroplasia. This partial deficiency is probably related to frequent middle ear infections and resulting conductive hearing loss. Hypotonia with delayed oropharyngeal muscle coordination and parental response to an altered, more infantile instinctive releasing pattern may be contributing factors.