ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2015
Developmental trajectories in 22q11.2 deletion.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 2 of them syntheses 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
83 citing papers in PubMed, 2 syntheses or guidelines pooled it, 218 citations in OpenAlex.
- A Systematic Review of Autoimmunity in 22q11.2 Deletion Syndrome.Expert reviews in molecular medicine · 2026Pooled it
- Autism spectrum disorder and schizophrenia: An updated conceptual review.Autism research : official journal of the International Society for Autism Research · 2022Pooled it
- Phase 2, open-label INSPIRE trial to assess the tolerability and effectiveness of transdermal cannabidiol gel in children and adolescents with 22q11.2 deletion syndrome (ZYN2-CL-031).Journal of neurodevelopmental disorders · 2026Trial
- Age-Related Dysphagia Among Children with 22q11.2-Deletion Syndrome.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026Article
- Interhemispheric CA1 projections to the subiculum support spatial cognition and are affected in a mouse model of the 22q11.2 deletion syndrome.Cell reports · 2026Article
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- Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion.Journal of neurodevelopmental disorders · 2025Article
- The impact of 22q11.2 deletion syndrome on caregivers: assessing quality of life and burden.Orphanet journal of rare diseases · 2025Article
- Verbal narrative ability and episodic autobiographical memory in adolescents and young adults with 22q11.2 deletion syndrome.Journal of neurodevelopmental disorders · 2025Article
- Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome.Psychiatry research · 2025Article
- Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.PloS one · 2025Article
- Adolescents and adults with FOXP1 syndrome show high rates of anxiety and externalizing behaviors but not psychiatric decompensation or skill loss.Frontiers in psychiatry · 2025Article
- Understanding obesity in children with 22q11.2 deletion syndrome.Frontiers in endocrinology · 2025Article
- Cognitive, adaptive and daily life functioning in adults with 22q11.2 deletion syndrome.BJPsych open · 2024Article
- Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.Journal of speech, language, and hearing research : JSLHR · 2024Article
- PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability.Orphanet journal of rare diseases · 2024Article
- Hardiness as a Resilience Factor for Adaptation in Families of Children With 22q11.2 Deletion Syndrome: A Mixed Methods Study of Parents' Perspectives.Journal of intellectual disabilities : JOID · 2024Article
- Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study.Journal of endocrinological investigation · 2024Article
- The 22q11.2 Deletion Syndrome from A Biopsychosocial Perspective: A Series of Cases with an ICF-Based Approach.Children (Basel, Switzerland) · 2024Article
23 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common microdeletion syndrome affecting 1 in 2,000-4,000 live births and involving haploinsufficiency of ∼50 genes resulting in a multisystem disorder. Phenotypic expression is highly variable and ranges from severe life-threatening conditions to only a few associated features. Most common medical problems include: congenital heart disease, in particular conotruncal anomalies; palatal abnormalities, most frequently velopharyngeal incompetence (VPI); immunodeficiency; hypocalcemia due to hypoparathyroidism; genitourinary anomalies; severe feeding/gastrointestinal differences; and subtle dysmorphic facial features. The neurocognitive profile is also highly variable, both between individuals and during the course of development. From infancy onward, motor delays (often with hypotonia) and speech/language deficits are commonly observed. During the preschool and primary school ages, learning difficulties are very common. The majority of patients with 22q11.2DS have an intellectual level that falls in the borderline range (IQ 70-84), and about one-third have mild to moderate intellectual disability. More severe levels of intellectual disability are uncommon in children and adolescents but are more frequent in adults. Individuals with 22q11.2DS are at an increased risk for developing several psychiatric disorders including attention deficit with hyperactivity disorder (ADHD), autism spectrum disorder (ASD), anxiety and mood disorders, and psychotic disorders and schizophrenia. In this review, we will focus on the developmental phenotypic transitions regarding cognitive development in 22q11.2DS from early preschool to adulthood, and on the changing behavioral/psychiatric phenotype across age, on a background of frequently complex medical conditions.
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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.