ArticleJournal of child psychology and psychiatry, and allied disciplines2021
Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries.
Article in Journal of child psychology and psychiatry, and allied disciplines, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Examining the Transition from Single Words to Phrase Speech in Children with ASD: A Systematic Review.Clinical child and family psychology review · 2024Pooled it
- Ages of sitting and walking milestone attainment in typically developing children worldwide: protocol for a scoping review.BMJ open · 2025Article
- Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome.American journal on intellectual and developmental disabilities · 2025Article
- Predicting Intervention Use in Youth with Rare Variants in Autism-Associated Genes.Journal of autism and developmental disorders · 2025Article
- Motor Impairment in Children with 16p11.2-Deletion and -Duplication Syndromes.Journal of autism and developmental disorders · 2025Article
- Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns.Journal of neurodevelopmental disorders · 2025Article
- Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Symmetric bimanual coordination discrepancy and activities of daily living in individuals with autism spectrum disorder.International journal of developmental disabilities · 2025Article
- Motor phenotypes associated with genetic neurodevelopmental disorders.Annals of clinical and translational neurology · 2024Article
- Enhanced motor noise in an autism subtype with poor motor skills.Molecular autism · 2024Article
- GM1 gangliosidosis type II: Results of a 10-year prospective study.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Observational
- Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.American journal of human genetics · 2024Article
- Motor difficulties in 16p11.2 copy number variation.Autism research : official journal of the International Society for Autism Research · 2024Article
- Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.Journal of neurodevelopmental disorders · 2024Article
- Differential Diagnosis of Autism and Other Neurodevelopmental Disorders.Pediatric clinics of North America · 2024Review
- GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.medRxiv : the preprint server for health sciences · 2024Article
- Slower pace in early walking onset is related to communication, motor skills, and adaptive function in autistic toddlers.Autism research : official journal of the International Society for Autism Research · 2024Article
- Targeted sequencing and clinical strategies in children with autism spectrum disorder: A cohort study.Frontiers in genetics · 2023Article
- Rethinking Our Concepts and Assumptions About Autism.Frontiers in psychiatry · 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
7 authors at 3 institutions in 3 countries.
Funding
Abstract
backgroundRecent large-scale initiatives have led to systematically collected phenotypic data for several rare genetic conditions implicated in autism spectrum disorder (ASD). The onset of developmentally expected skills (e.g. walking, talking) serve as readily quantifiable aspects of the behavioral phenotype. This study's aims were: (a) describe the distribution of ages of attainment of gross motor and expressive language milestones in several rare genetic conditions, and (b) characterize the likelihood of delays in these conditions compared with idiopathic ASD.
methodsParticipants aged 3 years and older were drawn from two Simons Foundation Autism Research Initiative registries that employed consistent phenotyping protocols. Inclusion criteria were a confirmed genetic diagnosis of one of 16 genetic conditions (Simons Searchlight) or absence of known pathogenic genetic findings in individuals with ASD (SPARK). Parent-reported age of acquisition of three gross motor and two expressive language milestones was described and categorized as on-time or delayed, relative to normative expectations.
resultsDevelopmental milestone profiles of probands with genetic conditions were marked by extensive delays (including nonattainment), with highest severity in single gene conditions and more delays than idiopathic ASD in motor skills. Compared with idiopathic ASD, the median odds of delay among the genetic groups were higher by 8.3 times (IQR 5.8-16.3) for sitting, 12.4 times (IQR 5.3-19.5) for crawling, 26.8 times (IQR 7.7-41.1) for walking, 2.7 times (IQR 1.7-5.5) for single words, and 5.7 times (IQR 2.7-18.3) for combined words.
conclusionsDelays in developmental milestones, particularly in gross motor skills, are frequent and may be among the earliest indicators of differentially affected developmental processes in specific genetically defined conditions associated with ASD, as compared with those with clinical diagnoses of idiopathic ASD. The possibility of different developmental pathways leading to ASD-associated phenotypes should be considered when deciding how to employ specific genetic conditions as models for ASD.
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.