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CHARGE association in Sweden: malformations and functional deficits.

Artikel i vetenskaplig tidskrift
Författare Kerstin Strömland
Lotta Sjögreen
Maria E I Johansson
Britt-Marie Ekman Joelsson
Marilyn Miller
Susanna Danielsson
Eva Billstedt
Christopher Gillberg
Catharina Jacobsson
Jan Andersson-Norinder
Gösta Granström
Publicerad i American journal of medical genetics. Part A
Volym 133
Nummer/häfte 3
Sidor 331-9
ISSN 1552-4825
Publiceringsår 2005
Publicerad vid Odontologiska institutionen
Institutionen för klinisk neurovetenskap, Sektionen för oftalmologi
Institutionen för särskilda specialiteter, Avdelningen för öron, näs- och halssjukdomar
Institutionen för särskilda specialiteter, Avdelningen för logopedi och foniatri
Institutionen för kvinnors och barns hälsa, Avdelningen för barn- och ungdomspsykiatri
Sidor 331-9
Språk en
Länkar dx.doi.org/10.1002/ajmg.a.30563
Ämnesord Abnormalities, Multiple, etiology, pathology, physiopathology, Adolescent, Adult, Autistic Disorder, pathology, physiopathology, Child, Child, Preschool, Choanal Atresia, pathology, Coloboma, pathology, Deafness, pathology, Ear, abnormalities, Female, Genitalia, abnormalities, Growth Disorders, pathology, Heart Defects, Congenital, pathology, Humans, Infant, Infant, Newborn, Male, Maternal Age, Paternal Age, Risk Factors, Sweden, Syndrome
Ämneskategorier Barn- och ungdomspsykiatri

Sammanfattning

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.

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