CHARGE association: Clinical manifestations and developmental outcome

Abstract

Mental retardation and growth failure are considered integral manifestations in the CHARGE association, reported to be present in as many as 90% of cases. Recent studies have reported a better than expected outcome in some patients; however, the conclusions of these studies have been confounded to some extent by their inclusion criteria. We report follow-up of 17 patients with CHARGE association in whom the diagnosis was based on clinical findings present in early infancy, before developmental patterns were established. Of the 7 survivors, all had motor delay, and 6 had feeding difficulties during infancy. Psychometric assessment at follow-up (age range 2 years, 10 months, to 15 years) showed that 2 were functioning in the normal range, 3 had specific language delay, one had moderate mental retardation, and one had severe mental retardation. Feeding problems persisted in only the 2 youngest patients. After initial failure to thrive, normal height was reached in 4 of 5 children older than age 3 years. The effects of visual and hearing deficits, their management, and the effects of physical illness are discussed with respect to developmental outcome. Our results suggest that some infants with CHARGE association who survive early infancy have a better prognosis for feeding difficulties, growth, and mental development than may be expected from early performance and better than that generally predicted from the current literature. The prompt management of sensory deficits is emphasized.

CHARGE association in Sweden: Malformations and functional deficits

“…The use of alternative modes of communication in order to overcome vision and hearing disabilities that may obscure communication, were carefully considered in the diagnostic evaluations. Much of the literature has suggested that mental retardation is almost universal in CA [Hall, 1979;Hittner et al, 1979;Pagon et al, 1981] while other authors describe variable mental function, even normal intelligence [Oley et al, 1988;Simon Harvey et al, 1991;Tellier et al, 1998]. Four-fifths of our patients were mentally retarded or developmentally delayed while one-fifth was functioning in the low average/normal range.…”

“…Autism and autistic-like features have previously been reported in a few patients with CA [Simon Harvey et al, 1991;Fernell et al, 1999]. Thalidomide embryopathy and Möbius sequence are conditions involving multiple birth defects, in which an association with autism has been noted [Ornitz et al, 1977;Gillberg and Steffenburg, 1989;Strömland et al, 1994;Johansson et al, 2001].…”

Olfactory Anomalies in CHARGE Syndrome: Imaging Findings of a Potential Major Diagnostic Criterion

“…Congenital anomalies of the olfactory structures in patients with CHARGE syndrome have been reported, 6,10,11 and a literature review indicates that olfactory dysmorphism and dysfunction are a crucial part of this malformative syndrome. [10][11][12][13][14] However, because olfaction is difficult to evaluate in neonates and young children, this anomaly has been largely underestimated.…”

“…[10][11][12][13][14] However, because olfaction is difficult to evaluate in neonates and young children, this anomaly has been largely underestimated. In this study, we assessed the degree and prevalence of olfactory anomalies detected on MR imaging examinations in a small sample of subjects with diagnosed CHARGE syndrome.…”

“…A postmortem study of 7 neonates with CHARGE syndrome revealed the presence of arrhinencephaly in all of the cases. 11 In a postabortion study of 10 severely malformed fetuses with the CHD7 mutation characteristic of CHARGE syndrome, all were found to have arrhinencephaly.…”