Cognitive skills in achondroplasia

Brinkmann, G.; Schlitt, Hans-Jürgen; Zorowka, Patrick; Spranger, J.

doi:10.1002/ajmg.1320470540

Cited by 36 publications

(29 citation statements)

References 15 publications

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“…Yet, the influence of hydrocephalus on cognitive development in ACH is not clear. Although intelligence has been described as normal in ACH, cognitive deficits have been reported [Brinkman et al, 1993]. Brinkman et al [1993] studied a group of 30 children with ACH in comparison to children with other forms of dwarfism, sibling controls, and normal controls.…”

Section: Introductionmentioning

confidence: 99%

“…Although intelligence has been described as normal in ACH, cognitive deficits have been reported [Brinkman et al, 1993]. Brinkman et al [1993] studied a group of 30 children with ACH in comparison to children with other forms of dwarfism, sibling controls, and normal controls. They found that children with ACH had more frequent histories of early motor and speech development delay and lower school grades.…”

Section: Introductionmentioning

confidence: 99%

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Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia

Thompson

Hecht²,

Bohan³

et al. 1999

Am. J. Med. Genet.

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We previously reported on cognitive and respiratory factors in a series of infants with achondroplasia (ACH). We now present the results of neuropsychological evaluation and magnetic resonance imaging in 16 school-age children with ACH, 7 of whom had been included as infants in our previous report. We examined the neuroanatomic and cognitive status of this sample, as well as the predictive stability of the prior infant assessment. Seventeen normally developing children of average stature and 21 preterm children with arrested (compensated, unshunted) hydrocephalus constituted the comparison groups. Brain volumes of children with ACH were significantly larger than those of the comparison groups. In addition, children with ACH exhibited kinking of the medulla and neuroanatomic abnormalities consistent with arrested hydrocephalus, including enlarged ventricles and hypoplasia of the corpus callosum. Cognitive abilities at school age were average, although mild deficits were seen on visual-spatial tasks, similar to those obtained by the hydrocephalic comparison group. Only gross motor coordination deficits distinguished the ACH group from the hydrocephalic controls. Infant assessment overestimated later school-age IQ scores in those infants with ACH who scored above average. These findings point to generally preserved cognitive skills in selected children with ACH at early school age, although children with ACH should be evaluated individually as they are at risk for cognitive, academic, and motor deficits.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia

Thompson

Hecht²,

Bohan³

et al. 1999

Am. J. Med. Genet.

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“…In adults, lumbar spinal stenosis leads to cauda equina syndrome of varying degrees of severity. Short, small eustachian tubes lead to an increased incidence of otitis media and hearing problems [Brinkmann et al, 1993].…”

Section: Introductionmentioning

confidence: 99%

Functional health status of adults with achondroplasia

1998

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Little is known regarding the functional health status of individuals with achondroplasia. This cross-sectional survey of adults with achondroplasia was undertaken to assess the functional health status of this population and its determinants. The study sample consisted of members of the Little People of America (LPA) who completed a mailed questionnaire consisting of a demographics component, a general and disease-specific comorbidities component, and the Short Form 36 (SF-36) health status questionnaire. Univariate analyses and multivariate linear regression models were used for data analysis. Four hundred thirty-seven individuals with a mean age of 38 years completed the survey. The age- and gender-adjusted Mental Component Summary (MCS) scores did not significantly differ from those of the general population. In contrast, the age- and gender-adjusted Physical Component Summary (PCS) scores were significantly lower than the general population starting in the fourth decade of life. Musculoskeletal diseases were most prevalent and had the greatest impact on the PCS scores. Two-thirds of this cohort had undergone at least one operation. Only musculoskeletal procedures were significantly associated with PCS and MCS scores. The functional health status of adults with achondroplasia, as measured by the SF-36, is not drastically reduced in comparison with that of the general U.S. population.

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“…Sporadic cases of achondroplasia and other dominant genetic disorders have been associated with advanced paternal age, suggesting that these mutations occur preferentially during spermatogenesis [9,10]. Diagnosis of achondroplasia is based on clinical findings, radiographic features and genetic test results [11]. In our study, all cases were disproportionately short with short limbs mainly proximal (rhizomelic); they had relatively long narrow trunk.…”

Section: Discussionmentioning

confidence: 52%