Ophthalmologic Impairment during Adulthood in Central Congenital Hypoventilation Syndrome: A Longitudinal Cohort Analysis of Nine Patients

Boulanger-Scemama, Élise; Fardeau, Christine; Straus, Christian; Touhami, Sara; Amini, Maryam; Similowski, Thomas; LeHoang, Phuc

doi:10.3109/13816810.2014.946056

Cited by 7 publications

(11 citation statements)

References 10 publications

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“…A recent study revealed the presence of strabismus, pupillary, and iris abnormalities in CCHS adults. 43 In this cohort, the prevalence of pupillary and iris abnormalities was less compared to children, indicating their potential role as systemic disease severity marker. 43 …”

Section: Phox2b and Respiratory Controlmentioning

confidence: 68%

“…CCHS is not just a disorder of respiratory control. Affected patients may have associated conditions due to ANS dysfunction including tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma) 6 , 30 – 32 gastroin testinal manifestations such as esophageal dysmotility, 14 , 33 constipation, 14 aganglionic megacolon Hirschsprung’s disease (HSCR), 1 , 6 , 14 , 34 and other signs and symptoms attributed to abnormal development of neural crest cells such as cardiovascular, 25 , 35 – 39 ophthalmologic, 14 , 40 – 43 endocrinologic, 44 – 48 and temperature regulation abnormalities. 49 CCHS patients may have dizziness and syncopal episodes due to cardiac rhythm or blood pressure control abnormalities.…”

Section: Clinical Presentationmentioning

confidence: 99%

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The genetics of congenital central hypoventilation syndrome: clinical implications

Bishara¹,

Keens²,

Perez³

2018

TACG

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Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine’s curse, is due to a mutation in the PHOX2B gene that affects the development of the neural crest cells. CCHS has an autosomal dominant pattern of inheritance. Majority of the patients have a polyalanine repeat mutation (PARM) of the PHOX2B, while a small group has non-PARM (NPARM). Knowledge of the patient’s PHOX2B gene mutation helps predict a patient’s clinical presentation and outcome and aids in anticipatory management of the respiratory and ANS dysfunction.

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Section: Phox2b and Respiratory Controlmentioning

confidence: 68%

Section: Clinical Presentationmentioning

confidence: 99%

The genetics of congenital central hypoventilation syndrome: clinical implications

Bishara¹,

Keens²,

Perez³

2018

TACG

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“…Three patients had documented mild-to-moderate pulmonary artery hypertension, five had gastroesophageal reflux requiring medical treatment, two had Hirschsprung’s disease (having required extensive colectomy in one case). Two patients had undergone strabismus corrective surgery, five suffered from convergence deficiency, and six had refraction abnormalities (some of these patients have been described in [ 12 ]).…”

Section: Methodsmentioning

confidence: 99%

“…Ventilatory support notably affects the patient’s and family’s lifestyle [ 8 ]. In addition, CCHS patients may present cardiac conduction disorders [ 7 , 9 , 10 ], severe constipation with Hirschsprung’s disease [ 7 ], gastroesophageal reflux, thermal dysregulation, orthostatic hypotension [ 11 ], ophthalmologic disorders [ 7 , 12 ], or neural crest tumors [ 7 ]. These abnormalities generate symptoms and may require specific treatments.…”

Section: Introductionmentioning

confidence: 99%

Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study

et al. 2015

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BackgroundCongenital central hypoventilation syndrome (CCHS) is a rare genetic disease due to PHOX2B mutations. CCHS patients suffer from many autonomic disorders, dominated clinically by defective ventilatory automatisms. From birth, the life of CCHS patients depends on ventilatory support during sleep, involving a high burden of care. Whether or not this impairs the quality of life of these patients during adulthood remains unknown.MethodsWe applied the medical outcome study short form-36 (SF-36) to 12 CCHS patients aged 15–33 (9 women) at the time of their passage from pediatric to adult care. Scores for the SF-36 dimensions were compared to the age- and gender-matched French reference population after transformation into standardized Z-scores. The SF-36 physical component summary score (PCS) and mental component summary score (MCS) were compared to American reference values.ResultsMedian Z-scores were significantly different from zero for PF (physical functioning, p = 0.020) and GH (general health perception, p = 0.0342) and for PCS (p = 0.020). The other physical dimensions (RP, role limitation due to physical function; BP, bodily pain) and the mental dimensions (VT, vitality; SF, social functioning; RE, role limitation due to emotional function; MH, mental health) and MCS were not altered.ConclusionsWe conclude that, despite the physical constraints imposed by CCHS and its anxiogenic nature, this disease is associated with an impairment of health-related quality of life in young adults that remains moderate. Whatever the underlying explanations, these results convey hope to parents with a child diagnosed with CCHS and for patients themselves.

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“…Zaburzenia narządu wzroku. U chorych, głównie z mutacjami PARM, opisano zez, zaburzenia funkcji źrenicy (nieprawidłowe kurczenie i rozszerzanie się w odpowiedzi na bodziec świetlny lub jego brak) i tęczówki (atrofia tęczówki, szczątkowy mięsień zwieracz źrenicy (Patwari et al, 2012;Boulanger-Scemama et al, 2014).…”

Section: Objawy Zespołu Wrodzonej Centralnej Hipowentylacji (Cchs)unclassified

W cieniu Klątwy Ondyny. Medyczne i psychologiczne aspekty funkcjonowania osób z rzadką chorobą genetyczną

Początek¹,

Michno²

2020

Studia Psychologica

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Zespół Wrodzonej Centralnej Hipowentylacji (ang. Congenital Central Hypoventilation Syndrome, CCHS) jest chorobą zaliczaną do schorzeń rzadkich, zagrażających życiu. CCHS wpływa na centralny i autonomiczny układ nerwowy, który kontroluje wiele automatycznych funkcji organizmu. Najbardziej rozpoznawalnym objawem CCHS jest w różnym stopniu nasilona niemożność kontrolowania procesu oddychania, co implikuje konieczność wspomagania wentylacji przez całą dobę lub jedynie w trakcie snu. Szacuje się, że na całym świecie występuje jedynie 1200 przypadków CCHS. W Polsce choroba została zdiagnozowana u zaledwie 18 dzieci, jak również istnieje stosunkowo niewiele materiałów naukowych jej poświęconych, dlatego problemy, z jakimi konfrontują się rodzice chorych dzieci stosunkowo rzadko stanowią temat analiz i dyskusji. Jednakże ze względu na złożoność problemów medycznych i psychospołecznych rodzice i pacjenci oczekują publikacji, które mogłyby stanowić dla nich źródło wiedzy i wsparcia.

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Ophthalmologic Impairment during Adulthood in Central Congenital Hypoventilation Syndrome: A Longitudinal Cohort Analysis of Nine Patients

Cited by 7 publications

References 10 publications

The genetics of congenital central hypoventilation syndrome: clinical implications

The genetics of congenital central hypoventilation syndrome: clinical implications

Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study

W cieniu Klątwy Ondyny. Medyczne i psychologiczne aspekty funkcjonowania osób z rzadką chorobą genetyczną

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