ArticleJournal of genetic counseling2015
The Impact on the Family of Four Neurogenetic Syndromes: A Comparative Study of Parental Views.
Article in Journal of genetic counseling, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- The burden of illness in Prader-Willi syndrome: a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review.American journal of medical genetics. Part A · 2018Pooled it
- Prelinguistic Communication Complexity of Children With Neurogenetic Syndromes.Journal of speech, language, and hearing research : JSLHR · 2025Article
- Optimizing a Personalized Health Approach for Virtually Treating High-Risk Caregivers of Children With Neurogenetic Conditions (Project WellCAST): Protocol for a Randomized Controlled Trial.JMIR research protocols · 2025Article
- Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases.Scientific reports · 2025Article
- "In God We Trust": An Exploratory Study of the Associations Between Religiosity and the Caregiving Experiences of Parents of Children with Rare Diseases in Poland.Journal of religion and health · 2024Article
- Mothering a Child With Complexity and Rarity: A Narrative Inquiry Exploring Prader-Willi Syndrome.Qualitative health research · 2024Article
- Caring for Children with Dravet Syndrome: Exploring the Daily Challenges of Family Caregivers.Children (Basel, Switzerland) · 2023Article
- Parental stress and adjustment in the context of rare genetic syndromes: A scoping review.Journal of intellectual disabilities : JOID · 2022Article
- Medical, welfare, and educational challenges and psychological distress in parents caring for an individual with 22q11.2 deletion syndrome: A cross-sectional survey in Japan.American journal of medical genetics. Part A · 2022Article
- Review
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- Brief Report: Challenging Behaviors in Toddlers and Preschoolers with Angelman, Prader-Willi, and Williams Syndromes.Journal of autism and developmental disorders · 2019Article
- Addressing the Educational Needs of Children with Williams Syndrome: A Rather Neglected Area of Research?Journal of autism and developmental disorders · 2018Review
- Life Satisfaction Among Mothers of Individuals with Prader-Willi Syndrome.Journal of autism and developmental disorders · 2016Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Research on behavioral phenotypes in neurogenetic syndromes has primarily focused on aspects of the affected child's behavior. However, the impact of having a child with a neurogenetic syndrome on aspects of family functioning can be significant and differ across syndromes. Parents (N = 381) of school-aged children with one of four neurogenetic syndromes: fragile X Syndrome (FXS), Prader Willi Syndrome (PWS), Williams Syndrome (WS) and 22q11.2 (22qDEL) were asked about challenges, restrictions, future concerns and positive aspects arising from having an affected child. Factors associated with these aspects were analysed via logistic regression. Restrictions were most often reported by parents of children with FXS. The factors significantly (p < .01) associated with the parent reported restrictions were the presence of a behavioral/psychiatric condition and a lower level of receptive communication. The challenges endorsed most often were the child's learning and social skills difficulties. Significant differences (p < .01) between the syndromes were noted for many of the challenges. Ninety-six percent of parents endorsed at least one positive aspect but most aspects endorsed did not differ between the genetic syndromes. Having a behavioral/psychiatric condition was the only factor significantly associated (p < .01) with endorsing a lower number of positive aspects and a higher number of challenges. There are some commonalities but also significant differences across syndromes regarding views on how a child's syndrome affects family functioning. These differences may be important with regard to how to counsel and support affected families. The presence of behavioral/psychiatric conditions is an important predictor of negative family outcome across the syndromes.
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.