Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

• Autores: Mulder, P A; van Balkom, I D C; Landlust, A M; Priolo, M; Menke, L A; Acero, I H; Alkuraya, F S; Arias, P; Bernardini, L; Bijlsma, E K; Cole, T; Coubes, C; Dapia, I; Davies, S; Di Donato, N; Elcioglu, N H; Fahrner, J A; Foster, A; González, N G; Huber, I; Iascone, M; Kaiser, A-S; Kamath, A; Kooblall, K; Lapunzina, P; Liebelt, J; Lynch, S A; Maas, S M; Mammì, C; Mathijssen, I B; McKee, S; Mirzaa, G M; Montgomery, T; Neubauer, D; Neumann, T E; Pintomalli, L; Pisanti, M A; Plomp, A S; Price, S; Salter, C; Santos-Simarro, F; Sarda, P; Schanze, D; Segovia, Mabel; Shaw-Smith, C; Smithson, S; Suri, M; Tatton-Brown, K; Tenorio, J; Thakker, R V; Valdez, R M; Van Haeringen, A; Van Hagen, J M; Zenker, M; Zollino, M; Dunn, W W; Piening, S; Hennekam, R C
• Año de publicación: 2020
• Idioma: inglés
• Tipo de recurso: artículo
• Fuente: Journal of Intellectual Disability Research 2020; 64(12):956-969
• Materia: Cognición; Sensación; Enfermedades Raras
• Institución: Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"

Fil: Mulder, P. A. Lentis Psychiatric Institute. Jonx Department of (Youth) Mental Health and Autism. Autism Team Northern-Netherlands, Groningen; Países Bajos.
Fil: van Balkom, I. D. C. Lentis Psychiatric Institute. Jonx Department of (Youth) Mental Health and Autism. Autism Team Northern-Netherlands, Groningen; Países Bajos.
Fil: Landlust, A. M. Lentis Psychiatric Institute. Jonx Department of (Youth) Mental Health and Autism. Autism Team Northern-Netherlands, Groningen; Países Bajos.
Fil: Priolo, M. Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli. Unità Operativa di Genetica Medica, Regio de Calabria; Italia.
Fil: Menke, L. A. University of Amsterdam. Amsterdam UMC. Department of Paediatrics, Ámsterdam; Países Bajos.
Fil: Acero, I. H. Hospital Universitario Central de Asturias. Genetics Unit, Oviedo; España.
Fil: Alkuraya, F. S. King Abdulaziz City for Science and Technology. Saudi Human Genome Project. and King Faisal Specialist Hospital. Department of Genetics. and Research Center, Riad; Arabia Saudita.
Fil: Arias, P. Universidad Autónoma de Madrid. IdiPAZ. Hospital Universitario La Paz. Institute of Medical and Molecular Genetics (INGEMM). and ISCIII. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid; España.
Fil: Bernardini, L. Casa Sollievo della Sofferenza Foundation. Cytogenetics Unit, San Giovanni Rotondo, Italia.
Fil: Bijlsma, E. K. Leiden University Medical Centre. Department of Clinical Genetics Leiden, Países Bajos.
Fil: Cole, T. Birmingham Women's and Children's NHS Foundation Trust. Department of Clinical Genetics, Birmingham; Reino Unido.
Fil: Coubes, C. CHRU Montpellier. Hôpital Arnaud de Villeneuve. Département de Génétique Médicale, Montpellier; Francia.
Fil: Dapia, I. Universidad Autónoma de Madrid. IdiPAZ. Hospital Universitario La Paz. Institute of Medical and Molecular Genetics (INGEMM). and ISCIII. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid; España.
Fil: Davies, S. University Hospital of Wales. Institute of Medical Genetics, Cardiff; Reino Unido.
Fil: Di Donato, N. TU Dresden. Institute for Clinical Genetics, Dresde; Alemania.
Fil: Elcioglu, N. H. Istanbul and Eastern Mediterranean University. Marmara University Medical School. Department of Pediatric Genetics, Mersin; Turquía.
Fil: Fahrner, J. A. Johns Hopkins University School of MedicineDepartment of Pediatrics. McKusick-Nathans Institute of Genetic Medicine, Baltimore, Maryland; Estados Unidos
Fil: Foster, A. University of Birmingham. College of Medical and Dental Sciences. Institute of Cancer and Genomic Sciences, Birmingham; Reino Unido.
Fil: González, N. G. Unit Hospital Universitario Central de Asturias, Oviedo, España.
Fil: Huber, I. Sørland Hospital, Kristiansand; Noruega.
Fil: Iascone, M. ASST Papa Giovanni XXIII. Medical Genetics Laboratory, Bérgamo; Italia.
Fil: Kaiser, A-S. Heidelberg University. Institute of Human Genetics, Heidelberg; Alemania.
Fil: Kamath, A. University Hospital of Wales. Institute of Medical Genetics, Cardiff; Reino Unido.
Fil: Kooblall, K. University of Oxford. Radcliffe Department of Medicine. Academic Endocrine Unit, Oxford; Reino Unido.
Fil: Lapunzina, P. Universidad Autónoma de Madrid. IdiPAZ. Hospital Universitario La Paz. Institute of Medical and Molecular Genetics (INGEMM). and ISCIII. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid; España.
Fil: Liebelt, J. Women's and Children's Hospital. South Australian Clinical Genetics Services, North Adelaide; Australia.
Fil: Lynch, S. A. University College Dublin. School of Medicine and Medical Sciences. UCD Academic Centre on Rare Diseases. and Temple Street Children's University Hospital. Clinical Genetics, Dublín; Irlanda.
Fil: Maas, S. M. Academic Medical Center. Department of Clinical Genetics, Ámsterdam, Países Bajos.
Fil: Mammì, C. Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli. Unità Operativa di Genetica Medica, Regio de Calabria; Italia.
Fil: Mathijssen, I. B. Academic Medical Center. Department of Clinical Genetics, Ámsterdam, Países Bajos.
Fil: McKee, S. Belfast Health and Social Care Trust. Northern Ireland Regional Genetics Service, Belfast; Reino Unido.
Fil: Mirzaa, G. M. Seattle Children's Research Institute. Center for Integrative Brain Research. and University of Washington School of Medicine. Division of Genetic Medicine, Seattle, Washington; Estados Unidos.
Fil: Montgomery, T. Newcastle upon Tyne. Newcastle upon Tyne NHS Foundation Trust; Reino Unido.
Fil: Neubauer, D. University Hospital Magdeburg. Institute of Human Genetics, Magdeburgo; Alemania.
Fil: Neumann, T. E. Mitteldeutscher Praxisverbund Humangenetik, Halle; Alemania.
Fil: Pintomalli, L. Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli. Unità Operativa di Genetica Medica, Regio de Calabria; Italia.
Fil: Pisanti, M. A. "Antonio Cardarelli" Hospital. Medical Genetic and Laboratory Unit, Nápoles; Italia.
Fil: Plomp, A. S. Academic Medical Center. Department of Clinical Genetics, Ámsterdam, Países Bajos.
Fil: Price, S. Northampton General Hospital NHS Trust. Department of Clinical Genetics, Northampton; Reino Unido.
Fil: Salter, C. Princess Ann Hospital. Wessex Clinical Genetics Service, Southampton; Reino Unido.
Fil: Santos-Simarro, F. Universidad Autónoma de Madrid. IdiPAZ. Hospital Universitario La Paz. Institute of Medical and Molecular Genetics (INGEMM). and ISCIII. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid; España.
Fil: Sarda, P. CHRU Montpellier. Hôpital Arnaud de Villeneuve. Département de Génétique Médicale, Montpellier; Francia.
Fil: Schanze, D. University Hospital Magdeburg. Institute of Human Genetics, Magdeburgo; Alemania.
Fil: Segovia, M. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Shaw-Smith, C. Royal Devon and Exeter NHS Foundation Trust, Exeter; Reino Unido.
Fil: Smithson, S. University Hospitals Bristol NHS Trust, Bristol; Reino Unido.
Fil: Suri, M. Nottingham University Hospitals NHS Trust. Nottingham Clinical Genetics Service, Nottingham; Reino Unido.
Fil: Tatton-Brown, K. St. George's University Hospitals NHS Foundation Trust. London and South West Thames Regional Genetics Service. Institute of Cancer Research. Division of Genetics and Epidemiology, Londres; Reino Unido.
Fil: Tenorio, J. Universidad Autónoma de Madrid. IdiPAZ. Hospital Universitario La Paz. Institute of Medical and Molecular Genetics (INGEMM). and ISCIII. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid; España.
Fil: Thakker, R. V. University of Oxford. Radcliffe Department of Medicine. Academic Endocrine Unit, Oxford; Reino Unido.
Fil: Valdez, R. M. Hospital Militar Central "Cirujano Mayor Dr. Cosme Argerich". Unidad Genética, Buenos Aires; Argentina.
Fil: Van Haeringen, A. Leiden University Medical Centre. Department of Clinical Genetics Leiden, Países Bajos.
Fil: Van Hagen, J. M. VU University Medical Centre. Department of Clinical Genetics, Ámsterdam; Países Bajos.
Fil: Zenker, M. University Hospital Magdeburg. Institute of Human Genetics, Magdeburgo; Alemania.
Fil: Zollino, M. Catholic University. Institute of Medical Genetics. Department of Laboratory Medicine, Roma; Italia.
Fil: Dunn, W. W. University of Missouri. School of Health Professions. Department of Occupational Therapy Education, Columbia, Misuri; Estados Unidos.
Fil: Piening, S. Lentis Psychiatric Institute. Jonx Department of (Youth) Mental Health and Autism. Autism Team Northern-Netherlands, Groninga; Países Bajos.
Fil: Hennekam, R. C. Lentis Psychiatric Institute. Jonx Department of (Youth) Mental Health and Autism. Autism Team Northern-Netherlands, Groninga; Países Bajos.
Background: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross-sectional study, and results are presented with genetic findings. Methods: Behavioural phenotypes are compared of eight individuals with Marshall-Smith syndrome (three male individuals) and seven with Malan syndrome (four male individuals). Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall-Smith syndrome. Results: Marshall-Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired speech and less reciprocal interaction compared with individuals with Malan syndrome. Sensory processing difficulties occur in both syndromes. Follow-up measurement of cognition and adaptive behaviour in Marshall-Smith syndrome shows different individual learning curves over time. Conclusions: Results show significant between and within syndrome variability. Different NFIX variants underlie distinct clinical phenotypes leading to separate entities. Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. This study highlights the value of considering behaviour within developmental and environmental context. To improve quality of life, adaptations to environment and treatment are suggested to create a better person-environment fit.