Outcome of isolated agenesis of the corpus callosum: A population-based prospective study. (January 2018)

• Record Type: Journal Article
• Authors: des Portes, Vincent; Rolland, Anne; Velazquez-Dominguez, Juan; Peyric, Emeline; Cordier, Marie-Pierre; Gaucherand, Pascal; Massardier, Jérôme; Massoud, Mona; Curie, Aurore; Pellot, Anne-Sophie; Rivier, François; Lacalm, Audrey; Clément, Amélie; Ville, Dorothée; Guibaud, Laurent
• Is Part Of: European journal of paediatric neurology. Volume 22:Number 1(2018:Jan.)
• Page Start: 82
• Page End: 92
• Publication Date: 2018-01
• Subjects: Cognitive outcome -- Corpus callosum agenesis -- Population-based prospective study; ACC Agenesis of the Corpus Callosum -- MRI Magnetic Resonance Imaging -- WPPSI-III/WPPSI-IV the Wechsler Pre-school and Primary Scale of Intelligence 3rd/4th edition -- WISC-IV the Wechsler Intelligence Scale for Children 4th edition -- IQ Intellectual Quotient -- PIQ Performance/Visuospatial IQ -- VIQ Verbal IQ -- FSIQ Full Scale Intellectual Quotient -- ASD Autism Spectrum Disorder -- ID Intellectual Disability -- SLD Specific learning disability -- ADHD Attention Deficit and Hyperactivity Disorder -- SLI Specific language impairment; Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2017.08.003
• Languages: English
• ISSNs: 1090-3798

Abstract

Abstract: Objectives: Neurodevelopmental outcome of apparently isolated agenesis of the corpus callosum (ACC) remains a major concern with uncertain prognosis. Despite "normal" IQ reported in a majority of patients, the rates of learning disabilities and severe outcome (ranging from 0% to 20%) are not clearly established. Methods: A large population-based series was investigated based on a longitudinal follow-up until school age, using Wechsler Intelligence scales at 3, 5, and 7 years. Results: Fifty women were referred to a tertiary referral unit for an "apparently" isolated ACC confirmed by ultrasound, foetal MRI, and karyotyping or array CGH. Twelve pregnancies were terminated, one foetus died in utero, one pregnancy outcome was unknown, and 36 babies were born. Two were lost to follow-up. Thirty-four children could be classified into three groups. Group 1 comprised two children (6%) with severe intellectual disability (one Mowat–Wilson syndrome and one ASD). Group 2 comprised 10 children (29%) who had learning disabilities and borderline intellectual functioning (VIQ and/or PIQ scores >70 and <85); three patients had hypopituitarism with additional MRI anomalies revealed after birth. Group 3 comprised 22 children (65%) who had both VIQ and PIQ >85 (−1 SD) with a normal school level. Longitudinal follow-up revealed weaker PIQ in younger children which improved with age. Conclusion: Our data indicate that intellectual ability is normal (IQ > 85) in approximately two thirds and borderline in just over a quarter of patients. However, a low risk of severe cognitive impairment exists, and this information should be shared with couples during prenatal counselling. Highlights: Neurodevelopmental outcome of apparently isolated agenesis of the corpus callosum remains a major concern in foetal medicine. The rates of both learning disabilities and severe outcome (ranging from 0% to 20%) are not clearly established. This study provides new data based on a large population-based longitudinal follow-up of 34 patients. 6% had severe Intellectual Disability, 29% borderline intellectual functioning and 65% strict normal IQ (>85). Visuospatial IQ was weaker in younger children.