Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up

CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developme...

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Bibliographic Details
Published in:American journal of medical genetics. Part C, Seminars in medical genetics Seminars in medical genetics, 2017-12, Vol.175 (4), p.407-416
Main Authors: Hefner, Margaret A., Fassi, Emily
Format: Article
Language:English
Subjects:
22q11.2 deletion syndrome
Anomalies
Birth defects
CHARGE syndrome
CHD7
Choanal atresia
Complexity
Congenital defects
deafblind, genetic counseling
Diagnosis
Diagnostic systems
Evaluation
Families & family life
Fragility
Genetic counseling
Genetic disorders
Genetic screening
Genetics
Hearing
Heredity
Illnesses
Intelligence
Kabuki syndrome
Multiple births
Parents
Patients
resources
sensory deficits
Skull
Smell
Vision
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Summary:CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developmental implications of CS features, referral to appropriate resources, and assistance with psychosocial adaptation to this information. CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies. The prime candidates in the differential are 22q11.2 deletion and Kabuki syndromes. Evaluation of features of CS, dysmorphology examination, and genetic testing can usually distinguish between the three conditions. Genetic counseling is important from early on, to help the family understand the process of genetic diagnosis, to interpret information coming from other specialists and to provide support and resources. Parents can easily be overwhelmed with the complexity of issues facing their child at diagnosis and in the future. CS is a substantial burden on a child, with high early mortality, multiple illnesses, hospitalizations and surgeries, and apparent medical fragility throughout life. The medical complexity of CS disrupts family life and contributes to delayed development. Multiple sensory deficits (impaired vision, hearing, and balance) further contribute to delayed motor and language development despite many individuals with CS having normal intelligence. Early referral to specialists in deafblindness and sensory deficits is essential. Resources are available to assist genetic counselors in diagnosis, follow‐up, and management of patients with CS.
ISSN:1552-4868
1552-4876
DOI:10.1002/ajmg.c.31589