ArticleJournal of intellectual disability research : JIDR2020
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Article in Journal of intellectual disability research : JIDR, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Dysmorphic syndromes with overgrowth - systematic review. Part 1 - monogenic syndromes.Pediatric endocrinology, diabetes, and metabolism · 2025Pooled it
- The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers.Journal of child psychology and psychiatry, and allied disciplines · 2026Article
- Peripersonal space and interpersonal distance as windows onto multisensory body representation in adolescents with overgrowth syndromes.Frontiers in human neuroscience · 2026Article
- [Nuclear Factor I-X Regulates Molecular Pathways Related to Craniofacial Development Through Phase Separation].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2025Article
- Article
- Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders.Developmental medicine and child neurology · 2025Article
- Overgrowth-intellectual disability disorders: progress in biology, patient advocacy and innovative therapies.Disease models & mechanisms · 2025Review
- Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability.Autism research : official journal of the International Society for Autism Research · 2025Article
- Profiling Cognitive and Social Functioning in a Small Cohort with Malan Syndrome.Children (Basel, Switzerland) · 2025Article
- Mechanistic insights intoFrontiers in genetics · 2025Article
- A Patient Case of Malan Syndrome Involving 19p13.2 Deletion ofJournal of clinical medicine · 2024Article
- Natural history in Malan syndrome: survey of 28 adults and literature review.Orphanet journal of rare diseases · 2024Review
- [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.American journal of medical genetics. Part A · 2024Article
- Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.American journal of medical genetics. Part C, Seminars in medical genetics · 2023Article
- Article
- Behavioral profiling in children and adolescents with Malan syndrome.Frontiers in child and adolescent psychiatry · 2023Article
- Sensory processing in 16p11.2 deletion and 16p11.2 duplication.Autism research : official journal of the International Society for Autism Research · 2022Article
- Sensory Profile of Children and Adolescents with Autism Spectrum Disorder and Tip-Toe Behavior: Results of an Observational Pilot Study.Children (Basel, Switzerland) · 2022Article
- Hydrocephalus inCells · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
58 authors at 20 institutions in 14 countries.
Funding
Abstract
backgroundUltrarare 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.
methodsBehavioural 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.
resultsMarshall-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.
conclusionsResults 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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.