Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: Phenotype comparison in two related syndromes
Open accessAbstract
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.
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Despite SSP1 validation for children up to 10 years, the study administered SSP1 to school-aged subjects until 18 years because of their ID level, as already used by other authors.
“Despite the validation reported by the authors concerning children up to 10 years of age, we decided to administer SSP1 to school-aged subjects until 18 years of age because of their ID level, as already used by other authors [42,43,44,45,46].”
From Sensory Profile of Children and Adolescents with Autism Spectrum Disorder and Tip-Toe Behavior: Results of an Observational Pilot Study (2022) · cites this paper as [43]
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- Authors
- 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. ‐., 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, M., 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.
- Affiliations
- Lentis (NL)
- Autism Team Northern‐Netherlands, Jonx Department of (Youth) Mental Health and Autism Lentis Psychiatric Institute Groningen Netherlands
- Azienda ospedaliera "Bianchi-Melacrino-Morelli" (IT)
- Amsterdam University Medical Centers (NL)
- Hospital Universitario Central de Asturias (ES)
- King Abdulaziz City for Science and Technology (SA)
- Hospital Universitario La Paz (ES)
- Casa Sollievo della Sofferenza (IT)
- Leiden University (NL)
- Birmingham Women’s and Children’s NHS Foundation Trust (GB)
- Hôpital Arnaud de Villeneuve (FR)
- Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII Madrid Spain
- University Hospital of Wales (GB)
- Institute for Clinical Genetics TU Dresden Dresden Germany
- Marmara University (TR)
- Johns Hopkins University (US)
- University of Birmingham (GB)
- Sørlandet Sykehus (NO)
- Ospedale Papa Giovanni XXIII (IT)
- Heidelberg University (DE)
- University of Oxford (GB)
- Women's and Children's Hospital (AU)
- University College Dublin (IE)
- Amsterdam UMC Location University of Amsterdam (NL)
- Belfast Health and Social Care Trust (GB)
- University of Washington (US)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- University Hospital Magdeburg (DE)
- Mitteldeutscher Praxisverbund Humangenetik Halle Germany
- Ospedale Antonio Cardarelli (IT)
- Northampton General Hospital (GB)
- Princess Anne Hospital (GB)
- Département de Génétique Médicale Hôpital Arnaud de Villeneuve, CHRU Montpellier Montpellier France
- CENAGEM, Centro Nacional de Genética Buenos Aires Argentina
- Royal Devon and Exeter NHS Foundation Trust Exeter UK
- University Hospitals Bristol NHS Foundation Trust (GB)
- Nottingham University Hospitals NHS Trust (GB)
- St George's Hospital (GB)
- Genetics Unit Hospital Militar Central "Cirujano Mayor Dr. Cosme Argerich" Buenos Aires Argentina
- Department of Clinical Genetics Leiden University Medical Centre Leiden Netherlands
- Department of Clinical Genetics VU University Medical Centre Amsterdam Netherlands
- Università Cattolica del Sacro Cuore (IT)
- University of Missouri (US)
- University Medical Center Groningen (NL)
- Corresponding author
- Mulder, P. A.
- ORCID
- Mulder, P. A.
- Landlust, A. M.
- Priolo, M.
- Menke, L. A.
- Alkuraya, F. S.
- Arias, P.
- Bernardini, L.
- Bijlsma, E. K.
- Cole, T.
- Elcioglu, N. H.
- Fahrner, J. A.
- Foster, A.
- Iascone, M.
- Kamath, A.
- Kooblall, K.
- Lapunzina, P.
- Lynch, S. A.
- Maas, S. M.
- Mathijssen, I. B.
- McKee, S.
- Mirzaa, G. M.
- Plomp, A. S.
- Salter, C.
- Santos‐Simarro, F.
- Schanze, D.
- Smithson, S.
- Suri, M.
- Tatton‐Brown, K.
- Tenorio, J.
- Thakker, R. V.
- Zenker, M.
- Zollino, M.
- Piening, S.
- Hennekam, R. C.
- Venue
- Journal of Intellectual Disability Research
- Publisher
- Wiley
- Published
- 2020-10-09
- Volume
- 64
- Issue
- 12
- Pages
- 956-969
- ISSN
- 0964-2633 (ISSN-L)
- 1365-2788
- PMC
- PMC8957705
- OpenAlex
- W3092360474
- Cited by
- 33
- References
- 26
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 12 · 2023: 8 · 2022: 6
- FWCI
- 2.05
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Intellectual Disability Research (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Leiden Repository (Leiden University) (submittedVersion, cc-by)
- Dspace Repository (Marmara Üniversitesi) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion, cc-by)
- Eastern Mediterranean University Institutional Repository (Eastern Mediterranean University) (submittedVersion, cc-by-nc-nd)
- Pure Amsterdam UMC (submittedVersion, other-oa)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, other-oa)
- Royal Devon and Exeter Research Repository (Royal Devon and Exeter) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (K08NS092898)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- Marshall-Smith syndrome, Malan syndrome, NFIX, intellectual disability, adaptive behavior, sensory processing difficulties, speech disorders, reciprocal interaction, behavioral problems, developmental variation, person-environment fit
- MeSH terms
- Abnormalities, Multiple, Adaptation, Psychological, Adolescent, Adult, Mental Disorders, Bone Diseases, Developmental, Child, Child, Preschool, Cross-Sectional Studies, Female, Follow-Up Studies, Humans, Male, Intellectual Disability, Netherlands, Phenotype, Speech Disorders, Syndrome, Comorbidity, Craniofacial Abnormalities, Septo-Optic Dysplasia, Young Adult
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