Vincent des Portes1, Anne Rolland2, Juan Velazquez-Dominguez3, Emeline Peyric3, Marie-Pierre Cordier4, Pascal Gaucherand5, Jérôme Massardier6, Mona Massoud6, Aurore Curie7, Anne-Sophie Pellot8, François Rivier9, Audrey Lacalm10, Amélie Clément3, Dorothée Ville3, Laurent Guibaud11. 1. Centre de référence « Déficiences Intellectuelles de causes rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France; Université de Lyon, F-69008 Lyon, France; Institut des Sciences Cognitives, CNRS UMR 5304, F-69675 Bron, France. Electronic address: vincent.desportes@chu-lyon.fr. 2. Centre de référence « Déficiences Intellectuelles de causes rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France; Neuropédiatrie, CHU de Montpellier, F-34295 Montpellier, France; U1046 INSERM UMR 9214 CNRS, Université de Montpellier, France. 3. Centre de référence « Déficiences Intellectuelles de causes rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France. 4. Service de génétique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France. 5. Service d'obstétrique, Hôpital Femme Mère Enfant, F-69677 Bron, France; Université de Lyon, F-69008 Lyon, France. 6. Service d'obstétrique, Hôpital Femme Mère Enfant, F-69677 Bron, France. 7. Centre de référence « Déficiences Intellectuelles de causes rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France; Université de Lyon, F-69008 Lyon, France; Institut des Sciences Cognitives, CNRS UMR 5304, F-69675 Bron, France. 8. Réanimation néonatale, HFME, F-69677 Bron, France. 9. Neuropédiatrie, CHU de Montpellier, F-34295 Montpellier, France; U1046 INSERM UMR 9214 CNRS, Université de Montpellier, France. 10. Radiologie pédiatrique et médecine fœtale, Hôpital Femme Mère Enfant, F-69677 Bron, France. 11. Université de Lyon, F-69008 Lyon, France; Radiologie pédiatrique et médecine fœtale, Hôpital Femme Mère Enfant, F-69677 Bron, France.
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.
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.
Authors: Ashley P L Marsh; Timothy J Edwards; Charles Galea; Helen M Cooper; Elizabeth C Engle; Saumya S Jamuar; Aurélie Méneret; Marie-Laure Moutard; Caroline Nava; Agnès Rastetter; Gail Robinson; Guy Rouleau; Emmanuel Roze; Megan Spencer-Smith; Oriane Trouillard; Thierry Billette de Villemeur; Christopher A Walsh; Timothy W Yu; Delphine Heron; Elliott H Sherr; Linda J Richards; Christel Depienne; Richard J Leventer; Paul J Lockhart Journal: Hum Mutat Date: 2017-11-11 Impact factor: 4.878
Authors: Romina Romaniello; Filippo Arrigoni; Patrizia De Salvo; Maria Clara Bonaglia; Elena Panzeri; Maria Teresa Bassi; Cecilia Parazzini; Andrea Righini; Renato Borgatti Journal: Ann Clin Transl Neurol Date: 2021-12-01 Impact factor: 4.511
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