CHARGE association in Sweden: Malformations and functional deficits

Abstract

CHARGE association (CA) consists of a non‐random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro‐psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty‐one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA. © 2005 Wiley‐Liss, Inc.

Ocular features of CHARGE syndrome

“…None of the participants in our series had an eyelid coloboma but, one of the participants did have an atypical iris coloboma, a feature also, infrequently reported, in CHARGE syndrome. 7,8,14 This atypical coloboma was accompanied by an ipsilateral, monocular chorioretinal coloboma: the typical CHARGE disk colobomas are bilateral. For CHARGE syndrome patients who have atypical eyelid and iris colobomas related to cranial nerve VII dysfunction, photophobia might be a profound symptom.…”

Facial palsy in individuals with thalidomide embryopathy: frequency and characteristics

“…12 Congenital facial palsy is also a frequent finding in other conditions involving malformations caused by early pregnancy incidents, such as Goldenhar syndrome and 'CHARGE' syndrome (the latter comprising coloboma, heart abnormalities, retardation of growth and/ or development, and genital and ear anomalies). [13][14][15][16][17] Five individuals (16 per cent) in the present study had a previous diagnosis of facial palsy, and one had bilaterally incomplete facial movements because of Parkinson's disease. Three individuals (10 per cent) had an acquired facial palsy, of whom two already had congenital nerve palsy on the opposite side.…”

Behavioral profiles and symptoms of autism in CHARGE syndrome: Preliminary Canadian epidemiological data

“…Fernell et al, 1999;Strömland et al, 2003Strömland et al, , 2005. CHARGE syndrome and ASD may be co-morbid by chance, or may be determined by the degree of central nervous system insult only (i.e., the greater the amount of damage, the higher the likelihood of autistic symptoms).…”