Natural history of 39 patients with Achondroplasia

Ceroni, José Ricardo Magliocco; Soares, Diogo Cordeiro de Queiroz; Testai, Larissa de Cássia; Kawahira, Rachel Sayuri Honjo; Yamamoto, Guilherme Lopes; Sugayama, Sofia Mizuho Miura; Oliveira, Luiz Antônio Nunes de; Bertola, Débora Romeo; Kim, Chong

doi:10.6061/clinics/2018/e324

Cited by 19 publications

(24 citation statements)

References 14 publications

(17 reference statements)

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“…Other central nervous system anomalies are occasionally described in the literature (Awad, Aleck, & Bhardwaj, ; Ceroni et al, ; Pauli & Legare, ). Some authors have reported associations with congenital heart defects (ventricular and atrial septal defects), hydronephrosis, microphthalmos and, more rarely, with sex chromosomal anomalies (Ceroni et al, ; Mantle & Kingsnorth, ; Nakanishi, Kawasaki, & Amano, ; Weiss, Kousseff, Ross, & Longbottom, ).…”

Section: Discussionmentioning

confidence: 98%

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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Section: Discussionmentioning

confidence: 98%

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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“…Both the total number of patients affected and the number of children with chronic headaches indicate that clinicians should be highly aware of the potential for chronic headaches. Aside from chronic headaches, pain is associated with multiple signs and symptoms of achondroplasia (Ceroni et al, 2018; Hunter et al, 1998; Pauli, 2019). In spite of this, daily analgesia was only used by a limited number of patients, and was not usually initiated until adulthood.…”

Section: Discussionmentioning

confidence: 99%

Natural history of achondroplasia: A retrospective review of longitudinal clinical data

Okenfuss

Moghaddam

Avins

2020

American J of Med Genetics Pt A

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There are limited data on the longitudinal frequency and severity of the symptoms and complications of achondroplasia. We undertook a retrospective electronic chart review of 114 patients to develop a more thorough understanding of the lifetime impact of achondroplasia. Craniocervical stenosis (involving the foramen magnum with or without cervical vertebrae C1 and/or C2) was noted in nearly 50% of patients with craniovertebral junction imaging; however, corrective decompression surgery was only needed in 6% of patients. No children in our cohort died at 4 years of age or under. Kyphosis was present in most patients but usually resolved in early childhood. Cervical and lumbar stenosis were diagnosed in children and adults while, genu varum, elbow contractures, and radial head dislocations were identified during childhood. Central sleep apnea and obstructive sleep apnea were present in children, while the diagnosis of obstructive sleep apnea was shown to recur in adulthood. Cardiovascular risk factors were present in only 7% of patients. A range of mental health disorders were identified, with most diagnoses being made before 18 years of age. Our data show that achondroplasia has a significant impact on patients' physical health, and complications continue to be reported and require intervention throughout patients' lifetimes. This highlights the need for continuous support beyond pediatric care, by adult care clinicians experienced with managing the long-term complications of achondroplasia.

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“…Eight of the included studies were published only as an abstract [ 26 – 33 ], and five studies as theses [ 34 – 38 ]. The remainder of the included studies (n = 40) was published as full-text articles [ 5 , 6 , 24 , 39 – 74 ]. One study [ 75 ] was published as full-text with an additional publication in abstract format [ 76 ].…”

Section: Resultsmentioning

confidence: 99%

“…Tables 1 and 2 summarize the key characteristics from those studies that reported at least one patient-important or economic outcome. Regarding study design, four were case series [ 26 , 34 , 35 , 73 ], 24 cross-sectional studies [ 5 , 6 , 24 , 29 , 36 – 38 , 40 , 45 , 48 , 50 – 54 , 56 , 58 , 60 , 61 , 66 , 69 , 70 , 72 , 75 ], and 25 case reports [ 27 , 28 , 30 – 33 , 39 , 41 – 44 , 46 , 47 , 49 , 55 , 57 , 59 , 62 – 65 , 67 , 68 , 71 , 74 ].…”

Section: Resultsmentioning

confidence: 99%

“…Achondroplasia (ACH) is the most prevalent skeletal dysplasia, occuring with a frequency of 1 in 25,000 births [ 1 – 3 ], with a worldwide birth prevalence estimated to be 4.6 per 100,000 [ 4 ]. In Latin American (LATAM) countries, the birth prevalence ranges from 0.26 [ 4 , 5 ] to approximately 0.45 [ 6 , 7 ] in 10,000. However, data from the Latin American Collaborative Study of Congenital Malformations (ECLAMC) estimates a similar incidence in non-LATAM countries of 0.43 in 10,000 or 0.45 in 10,000 [ 8 ]…”

Section: Introductionmentioning

confidence: 99%

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Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

Fano

Kim²,

Rosselli

et al. 2022

Orphanet J Rare Dis

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Background Achondroplasia (ACH), the most common form of disproportionate short stature, is caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene. Recent advances in drug therapy for ACH have highlighted the importance of elucidating the natural history and socioeconomic burden of this condition. Recognition that there are many potential issues for the patient with ACH is the first step in planning cost-effective interventions in Latin America (LATAM), a vast geographic territory comprising countries with multicultural characteristics and wide socioeconomic differences. We conducted a systematic literature review to characterize the impact of ACH on affected individuals and on healthcare resources in LATAM countries. Methods Searches of the global medical literature as well as regional and local medical literature up to August 2020. Observational studies on patients with ACH from any LATAM country. Pairs of reviewers independently screened eligible articles, extracted data from included studies, and assessed their risk of bias. Results Fifty-three unique studies (28 case series and cross-sectional studies and 25 case reports) including data on 1604 patients were eligible. Of these studies, 11 had data available for meta-analysis. Both premature mortality and all-cause mortality in the pooled studies was 15% [95% Confidence Interval (CI) 1.0E−3 to 0.47; I2 = 82.9%, p = 0.0029; three studies, n = 99 patients]. Frequency of cardio-respiratory-metabolic disorders was 17% [95% CI 0.04–0.37; I2 = 90.3%, p < 0.0001; four studies, n = 230 patients]; nervous system disorders was 18% [95% CI 0.07–0.33; I2 = 84.6%, p < 0.0001; six studies, n = 262 patients]; ear, nose, throat and speech disorders was 32% [95% CI 0.18–0.48; I2 = 73.4%, p = 0.0046; five studies, n = 183 patients]; and spinal issues including stenosis, compression and associated pain was 24% [95% CI 0.07–0.47; I2 = 91.3%, p < 0.0001; five studies, n = 235 patients]. Conclusions There is currently evidence of high clinical burden in ACH patients in LATAM countries. Establishing the impact of ACH provides the necessary foundation for planning tailored and effective public health interventions.

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Natural history of 39 patients with Achondroplasia

Cited by 19 publications

References 14 publications

Epidemiology of achondroplasia: A population‐based study in Europe

Epidemiology of achondroplasia: A population‐based study in Europe

Natural history of achondroplasia: A retrospective review of longitudinal clinical data

Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

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