The neuropsychological function of children with achondroplasia

Wigg, Kimberley; Tofts, Louise; Benson, Suzanne; Porter, Melanie

doi:10.1002/ajmg.a.37779

Cited by 14 publications

(15 citation statements)

References 24 publications

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“…Of course, cognitive issues may arise secondary to other sequelae of achondroplasia – hydrocephalus, hypoxic injury and so forth. Furthermore, untreated obstructive sleep apnea may have serious developmental consequences in children with achondroplasia [182].…”

Section: Natural History and Managementmentioning

confidence: 99%

Achondroplasia: a comprehensive clinical review

Pauli¹

2019

Orphanet J Rare Dis

350

374

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Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain.

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Section: Natural History and Managementmentioning

confidence: 99%

Achondroplasia: a comprehensive clinical review

Pauli¹

2019

Orphanet J Rare Dis

350

374

View full text Add to dashboard Cite

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“…and/or adolescents, 18 years) [33][34][35][36][37][38][39][40][41], 4 in adults (!16years) [42][43][44][45], and 6 included both pediatric and adult patients [46][47][48][49][50][51][52].…”

Section: Characteristics Of Included Studiesmentioning

confidence: 99%

Quality of life, physical functioning, and psychosocial function among patients with achondroplasia:a targeted literature review

Constantinides

Landis

Jarrett

et al. 2021

Disability and Rehabilitation

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Purpose: Achondroplasia (ACH) is the most common form of skeletal dysplasia, resulting in disproportionate short stature and medical complications. We review the literature on physical functioning, psychosocial function, and quality of life (QoL) in ACH individuals compared to average stature individuals or other short stature conditions. Studies that assess the association between these outcomes and height, limb length/lengthening surgery in ACH patients are also summarized. Materials and methods: PubMed/MEDLINE and Embase were searched through April 2021. Study inclusion criteria were: (1) quantitative design; (2) study population consisting solely/mainly of ACH patients;(3) reports of physical functioning, psychosocial functioning, and/or QoL. Included studies were summarized separately for pediatric and adult populations. Results: Of 1664 records identified, 23 primary studies (sample size 8-437 participants) were included. Multiple tools were used across studies, including the generic PedsQL and SF-36 and height-specific QoLISSY. Conclusions: The literature demonstrates that ACH patients experience limitations in physical functioning and poorer QoL outcomes compared to average stature people across the life span. This appeared to be at least in part due to disproportionate short stature. Future research to better characterize QoL in ACH patients will assist clinicians to better evaluate the effectiveness of management programs including novel interventions. ä IMPLICATIONS FOR REHABILITATIONPatients with achondroplasia experience limitations in physical functioning and poorer quality of life throughout their life course when compared to average statured individuals. Psychosocial issues are also heightened in adults with achondroplasia compared to average statured peers but are observed less frequently in children and adolescents with achondroplasia. The overall impact that limb lengthening has on physical functioning and QoL remains unclear, although there is some evidence that greater height or upper limb length may lead to an improvement in these parameters. Rehabilitation professionals should regularly assess physical functioning, psychosocial wellbeing, and quality of life in individuals with achondroplasia using condition-specific tools.

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“…Average adult height is 131 ± 5.6 cm for males and 124 ± 5.9 cm for females. Cognitive function is normal unless hydrocephalus or other central nervous system complications occur (Wigg, Tofts, Beson, & Porter, ). Infants and children with achondroplasia have an increased risk of apnea and sudden death due to compression of the foramen magnum (Hecht, Francomano, Horton, & Annegers, ; Horton, Hall, & Hecht, ).…”

Section: Introductionmentioning

confidence: 99%

Epidemiology of achondroplasia: A population‐based study in Europe

Coi

Santoro

Garne

et al. 2019

American J of Med Genetics Pt A

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Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia.We present the largest European population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries were included in the study. Prevalence, birth outcomes, prenatal diagnosis, associated anomalies, and the impact of paternal and maternal age on de novo achondroplasia were presented. The study population consisted of 434 achondroplasia cases with a prevalence of 3.72 per 100,000 births (95%CIs: 3.14-4.39). There were 350 live births, 82 terminations of pregnancy after prenatal diagnosis, and two fetal deaths. The prenatal detection rate was significantly higher in recent years (71% in 2011-2015 vs. 36% in 1991-1995). Major associated congenital anomalies were present in 10% of cases. About 20% of cases were familial. After adjusting for maternal age, fathers >34 years had a significantly higher risk of having infants with de novo achondroplasia than younger fathers. Prevalence was stable over time, but regional differences were observed. All pregnancy outcomes were included in the prevalence estimate with 80.6% being live born. The study confirmed the increased risk for older fathers of having infants with de novo achondroplasia. K E Y W O R D Sachondroplasia, epidemiology, EUROCAT, paternal age, prevalence, skeletal dysplasia

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The neuropsychological function of children with achondroplasia

Cited by 14 publications

References 24 publications

Achondroplasia: a comprehensive clinical review

Achondroplasia: a comprehensive clinical review

Quality of life, physical functioning, and psychosocial function among patients with achondroplasia:a targeted literature review

Epidemiology of achondroplasia: A population‐based study in Europe

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