<scp>CHARGE</scp> syndrome: A review

Hsu, Peter; Ma, Alan; Wilson, Meredith; Williams, George; Curotta, John; Munns, Craig F; Mehr, Sam

doi:10.1111/jpc.12497

Cited by 147 publications

(139 citation statements)

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“…To the best of our knowledge, this is the first study to report a significant association between HH, delayed puberty and NDD morbidity using a population‐based design. Our results expand the current literature indicating neurodevelopmental problems in syndromes with hypogonadism as a clinical feature, such as Klinefelter and CHARGE syndromes …”

Section: Discussionsupporting

confidence: 89%

Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders

Gotby

Söder

Frisén

et al. 2019

J Neuroendocrinology

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Hypogonadotrophic hypogonadism (HH) is a rare disorder that manifests absent puberty and infertility. Genetic syndromes with hypogonadism, such as Klinefelter syndrome, are associated with an increased risk of neurodevelopmental disorders (NDDs). However, it is not clear whether patients with HH or transient delayed puberty in general, have an increased risk of NDDs. We performed a register‐based study on a national cohort of 264 patients with HH and 7447 patients diagnosed with delayed puberty that was matched with 2640 and 74 470 controls, respectively. The outcome was defined as having any of the following NDD diagnoses: (i) autism spectrum disorder (ASD); (ii) attention deficit hyperactivity disorder (ADHD); or (iii) intellectual disability (ID). Additional sensitivity analyses were performed to control for different parental and birth variables, as well as diagnosed malformation syndromes and chromosomal anomalies (ie, Down’s and Turner syndromes). Patients with HH had increased risk for being diagnosed with ASD (odds ratio [OR] = 5.7; 95% confidence interval [CI] = 2.6‐12.6), ADHD (OR = 3.0; 95% CI = 1.8‐5.1) and ID (OR = 18.0; 95% CI = 8.9‐36.3) compared to controls. Patients with delayed puberty also had a significantly increased risk of being diagnosed with an NDD. These associations remained significant after adjustments. This is the first study to demonstrate a significant association between HH, delayed puberty and NDDs in a population‐based cohort. Clinicians should be aware of the overlap between these disorders. Further studies should explore the mechanisms behind these associations.

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Section: Discussionsupporting

confidence: 89%

Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders

Gotby

Söder

Frisén

et al. 2019

J Neuroendocrinology

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“…CHARGE syndrome is characterized by craniofacial defects such as orofacial clefting, cranial nerve anomalies and ear deformities (Hsu et al, ; Hudson, Macdonald, Friedman, & Blake, ). Most of these phenotypes are known to be associated with defects in cranial neural crest cell development (Kurosaka, Trainor, Leroux‐Berger, & Iulianella, ; Trainor, ).…”

Section: Charge Syndromementioning

confidence: 99%

Choanal atresia and stenosis: Development and diseases of the nasal cavity

Kurosaka

2018

WIREs Developmental Biology

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Proper craniofacial development in vertebrates depends on growth and fusion of the facial processes during embryogenesis. Failure of any step in this process could lead to craniofacial anomalies such as facial clefting, which has been well studied with regard to its molecular etiology and cellular pathogenesis. Nasal cavity invagination is also a critical event in proper craniofacial development, and is required for the formation of a functional nasal cavity and airway. The nasal cavity must connect the nasopharynx with the primitive choanae to complete an airway from the nostril to the nasopharynx. In contrast to orofacial clefts, defects in nasal cavity and airway formation, such as choanal atresia (CA), in which the connection between the nasal airway and nasopharynx is physically blocked, have largely been understudied. This is also true for a narrowed connection between the nasal cavity and the nasopharynx, which is known as choanal stenosis (CS). CA occurs in approximately 1 in 5,000 live births, and can present in isolation but typically arises as part of a syndrome. Despite the fact that CA and CS usually require immediate intervention, and substantially affect the quality of life of affected individuals, the etiology and pathogenesis of CA and CS have remained elusive. In this review I focus on the process of nasal cavity development with respect to forming a functional airway and discuss the cellular behavior and molecular networks governing this process. Additionally, the etiology of human CA is discussed using examples of disorders which involve CA or CS. This article is categorized under: Signaling Pathways > Cell Fate Signaling Comparative Development and Evolution > Model Systems Birth Defects > Craniofacial and Nervous System Anomalies

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“…Suck, swallow, breath, synchrony should be discussed as an important physiological developmental milestone (Hsu et al, 2014). A previous study identified that parents' number one concern with packing of food into cheeks and over-stuffing was the possibility of choking on food .…”

Section: Chokingmentioning

confidence: 99%

Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head‐to‐toe

Blake

Hudson

2017

American J of Med Genetics Pt C

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CHARGE syndrome is an autosomal dominant genetic condition that is primarily diagnosed based on clinical features, with genetic testing available for confirmation.The CHARGE mnemonic stands for some of the common characteristics: coloboma, heart defects, atresia/stenosis of the choanae, retardation of growth/development, genitourinary anomalies, and ear abnormalities (CHARGE). However, many of the common clinical features are not captured by this mnemonic, including cranial nerve dysfunction, considered by some to be one of the major diagnostic criteria. Over 90% of individuals experience feeding and gastrointestinal dysfunction, which carries great morbidity and mortality. The aim of this review is to examine the nature of gastrointestinal (GI) symptoms and feeding difficulties in CHARGE syndrome, focusing on their underlying pathology, associated investigations, and available treatment options. We also provide information on available tools (for parents, clinicians, and researchers) that are important additions to the lifelong healthcare management of every individual with CHARGE syndrome. We review how cranial nerve dysfunction is one of the most important characteristics underlying the pervasive GI and feeding dysfunction, and discuss the need for future research on gut innervation and motility in this genetic disorder. trachea-eosophageal fistula, developmental delay) contribute directly to feeding and GI issues, highlighting the pervasiveness of these dysfunctions (Blake et al., 1998;Verloes, 2005). The structural anomalies, motor impairment, and oral sensory impairment all contribute to these issues, and are all potential treatment targets.The aim of this review is to comprehensively summarize the existing literature on the nature of GI and feeding dysfunction in CHARGE syndrome, including the pathophysiology, symptomology, and treatment options. | METHODSAn electronic systematic search was conducted via PubMed using the following search terms: CHARGE syndrome and GI, feeding, reflux, or cranial nerve. There were no restrictions placed on article type or year of publication. Titles and abstracts were reviewed for relevance.Reference lists of identified articles were reviewed for inclusion of any additional relevant articles. The articles were summarized and divided into type of feeding or GI problem, from mouth to anus. The original list of articles was then reappraised to identify any missing topics. | RESULTSNinety-seven articles were identified using the search strategy. Titles and abstracts were screened for relevance to the topic and any duplicates, which resulted in the exclusion of 49 articles. The remaining 48 articles' reference lists were reviewed for additional relevant articles. A final total of 71 articles were included for review. Their findings are summarized below, from head-to-toe. Table 1 displays a summary of the phenotypic characteristics of CHARGE syndrome, FIGURE 1 A highlight of the multitude of factors contributing to gastrointestinal and feeding dysfunction in CHARGE syndrome FIGU...

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CHARGE syndrome: A review

Abstract: CHARGE syndrome is a complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the CHD7 gene. In this review, we discuss the diagnosis, clinical features and management of CHARGE syndrome.

Cited by 147 publications

References 50 publications

Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders

Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders

Choanal atresia and stenosis: Development and diseases of the nasal cavity

Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head‐to‐toe

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