Biomedical subjects

Kim D Blake

Publications and source records attributed to Kim D Blake.

4 recordsLinked to original sources

PubMed2006

CHARGE syndrome.

CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1-1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75-80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions.

Abnormalities, Multiple↗

PubMed2005

An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study.

CHARGE syndrome is a well-characterized clinical diagnosis with recent data supporting a genetic etiology. A 3-year national surveillance coordinated by the Canadian Pediatric Surveillance Program (CPSP) was started in September 2001. Physicians notified the CPSP if they had cared for individuals with CHARGE syndrome within their practice, and then completed a detailed reporting form. To date, there are 77 confirmed cases of CHARGE syndrome. The highest provincial prevalence of CHARGE syndrome in Canada was estimated at 1 in 8,500 live births. Subgroups of cases with particular clusters of anomalies were identified. In older individuals, bilateral posterior choanal atresia (BPCA) was predictive of the presence of the three other major criteria and of aortic arch anomalies. Individuals with CHARGE syndrome who demonstrated a less extensive phenotype (<or=3 major criteria) were more likely to present with minor cardiovascular malformations, including small atrial or ventricular septal defects (VSD) or patent ductus arteriosus (PDA). A significant cause of morbidity was severe feeding difficulty, including problems with chewing, swallowing, and gastroesophageal reflux, which were prevalent throughout childhood. Infant mortality is high in individuals with CHARGE syndrome. However, life expectancy has improved for those surviving their first year. Increased mortality was associated with distinct cardiovascular malformations or ventriculomegaly combined with brainstem or cerebellar anomalies. From this study, revised diagnostic criteria are proposed for infants, children, and adolescents to help identify a group of individuals who represent CHARGE syndrome with more of the classical features as apposed to the boarder association.

Abnormalities, Multiple↗

PubMed2005

CHARGE syndrome from birth to adulthood: an individual reported on from 0 to 33 years.

CHARGE syndrome was independently reported by Hall [(1979): J Pediatr 95:395-398] and Hittner et al. [(1979): J Pediatr Ophthalmol Strabismus 16:122-128] and was initially considered to be a non-random association between distinct multiple congenital anomalies. It is now considered to be a recognizable syndrome with well-characterized diagnostic criteria and a genetic pathogenesis. We report on a 33-year-old adult male with CHARGE syndrome, with emphasis on the unique medical, behavioral, and psychological issues faced in adulthood. Characteristic facial and ear abnormalities were obvious in early childhood, and bilateral retinal colobomata, left choanal atresia, right congenital hip dislocation, and hypogonadism were diagnosed during the first year. Walking was delayed due to vestibular problems, speech was impaired due to moderately severe hearing loss, and use of sign communication was limited. Choanal atresia was surgically corrected in infancy, and atrial septal defect, ventricular septal defect, and patent ductus arteriosus were surgically corrected in childhood. Undescended testes were removed in adolescence, and gallstones were removed in early adulthood. Puberty was delayed until hormone replacement therapy began at 15 years. Behavioral disturbances and anxiety persisted throughout childhood, adolescence, and into adulthood, often resulting from communication challenges. At 33 years of age, he lives independently in a supervised group home, receives regular eye check-ups and is being monitored for severely reduced bone density.

Abnormalities, Multiple↗

PubMed2005

Adolescent and adult issues in CHARGE syndrome.

Very little information has been published about adolescents and older individuals with Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and deafness (CHARGE) syndrome. This paper describes the results of a study that identifies the unique issues faced by adolescents and adults with CHARGE. Descriptive information was gathered from parents of patients with CHARGE, and/or the patients themselves, about their developmental, medical, educational, and social history. The resulting body of information provides important insights into the prognosis and special needs of individuals with CHARGE, as well as further research questions.

Activities of Daily Living↗