Audiological findings of patients with achondroplasia

Glass, Lillian; Шапиро, И.С.; Hodge, Susan E.; Bergstrom, LaVonne; Rimoin, David L.

doi:10.1016/0165-5876(81)90028-8

Cited by 30 publications

(28 citation statements)

References 8 publications

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“…Half of the tested patients showed conductive hearing loss. An even higher frequency was reported by others [Glass et al, 1981;Hall, 19881. Recurrent upper airway infections and otitis media are common in young children with achondroplasia.…”

Section: Discussionsupporting

confidence: 60%

Cognitive skills in achondroplasia

Brinkmann¹,

Schlitt²,

Zorowka³

et al. 1993

Am. J. Med. Genet.

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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.

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Section: Discussionsupporting

confidence: 60%

Cognitive skills in achondroplasia

Brinkmann¹,

Schlitt²,

Zorowka³

et al. 1993

Am. J. Med. Genet.

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“…these previous studies have the advantage of of more complete audiological evaluations, they 1M are limited by relatively small numbers (18-2818 patients), a paucity of paediatric data,'8 or ect selected referral to an ENT department.22 The )es cumulative figures for conductive hearing loss in nd the present study show that by adulthood about ore 38% ofpatients will have had this diagnosis. Not…”

mentioning

confidence: 62%

Medical complications of achondroplasia: a multicentre patient review.

Hunter

Bankier

Rogers

et al. 1998

Journal of Medical Genetics

267

222

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“…Hunter et al reported a rate of CHL of 38% by adulthood in patients with achondroplasia [1]. Glass et al reported that 28 patients with achondroplasia were identified as having a greater rate of hearing loss than 10 patients with other skeletal dysplasia, of which CHL was more common than SNHL [12]. Collins and Choi reported that CHL predominates in patients with achondroplasia [8].…”

Section: Discussionmentioning

confidence: 96%