Early and intensive interventions for children with chromosomal abnormalities or other genetic conditions that may be associated with intellectual disability

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SBU Enquiry Service

Responds to queries received from Swedish healthcare and social service providers, or governmental organisations. Queries have a limited scope and the process is designed to enable a more rapid response, typically within two to three months. Reports are based on systematic reviews, that are identified through structured searches and critically appraised for risk of bias.

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Published: Report no: ut202613 Registration no: SBU 2026/342

Question

What are the effects of early and intensive interventions for children with chromosomal abnormalities or other genetic conditions that may be associated with intellectual disability?

PICO

  • Population: Children with any of the prespecified chromosomal abnormalities or other genetic conditions that may be associated with intellectual disability, regardless of whether intellectual disability has been established in the child
  • Intervention: Non-pharmacological interventions initiated before the age of 7 years and comprising at least 10 intervention sessions within a six-month period
  • Comparison: No intervention, waitlist control, or usual care
  • Outcome: Outcomes related to participation, activity (execution of a task or action), body functions (e.g., communication abilities and motor function), and adaptive functioning

Method

A systematic literature search was performed using the following databases: Ovid Medline via Ovid, Scopus, and PsycInfo via EBSCO.

Two authors independently assessed the abstracts of all identified studies.

Risk of bias in relevant systematic reviews was assessed using an assessment tool based on AMSTAR.

Identified literature

One relevant systematic reviews with low to moderate risk of bias were identified [1]. The results and conclusions are presented in Table 1. In five relevant systematic reviews, the risk of bias was considered to be high, therefore the results and conclusions are not reported [2-6].

Table 1 Systematic reviews with low/moderate risk of bias.
Included studies Population, Intervention, Control Outcome and Results
O’Toole et al, 2018 [1]
Parent-mediated interventions for promoting communication and language development in young children
with Down syndrome
2 randomized controlled studies
1 quasi-randomized controlled studies 

Setting:
Canada: 1 study
Turkey: 1 study
USA: 1 study		 Population:
Primary caregivers of children with
Down syndrome aged between birth
and six years

Intervention:
All parent‐mediated interventions
designed to improve communication
and language in children with Down
syndrome from birth to six years of age

Control:
Treatment as usual
Clinician‐mediated treatment
Wait-listed treatment
No treatment		 Primary outcomes:
Expressive and receptive
language and communication
Results could not be pooled in a
meta-analysis because of differences
in outcome measures and reporting.
Results from individual studies were
inconsistent and the certainty of the
evidence was assessed as very low.
Authors' conclusion:
“Overall, this narrative review is inconclusive as to whether children with Down syndrome make gains in language and communication skills following parent‐mediated intervention.”

References

  1. O'Toole C, Lee AS, Gibbon FE, van Bysterveldt AK, Hart NJ. Parent-mediated interventions for promoting communication and language development in young children with Down syndrome. Cochrane Database Syst Rev. 2018;10(10):CD012089. Available from: https://doi.org/10.1002/14651858.CD012089.pub2
  2. Gómez-Cotilla R, López-de-Uralde-Selva MdlÁ, Valero-Aguayo L. Efficacy of Early Intervention Programmes: Systematic Review and Meta-analysis. Psicol Educ (Madr). 2024;30(1):1–10. Available from: https://doi.org/10.5093/psed2024a1
  3. Kinaci-Biber E, Onerge K, Mutlu A. Gait characteristics and effects of early treadmill intervention in infants and toddlers with down syndrome: a systematic review. Disabil Rehabil. 2022;44(26):8139–48. Available from: https://doi.org/10.1080/09638288.2021.2010818
  4. Rodriguez-Grande EI, Buitrago-Lopez A, Torres-Narvaez MR, Serrano-Villar Y, Verdugo-Paiva F, Avila C. Therapeutic exercise to improve motor function among children with Down Syndrome aged 0 to 3 years: a systematic literature review and meta‑analysis. Sci Rep. 2022;12(1):13051. Available from: https://doi.org/10.1038/s41598-022-16332-x
  5. Seager E, Sampson S, Sin J, Pagnamenta E, Stojanovik V. A systematic review of speech, language and communication interventions for children with Down syndrome from 0 to 6 years. Int J Lang Commun Disord. 2022;57(2):441–63. Available from: https://doi.org/10.1111/1460-6984.12699
  6. Te Kaat‐van den Os DJA, Jongmans MJ, Volman MJM, Lauteslager PEM. Parent‐Implemented Language Interventions for Children with a Developmental Delay: A Systematic Review. J Policy Pract Intellect Disabil. 2017;14(2):129–37. Available from: https://doi.org/10.1111/jppi.12181

Search strategies

Medline via OvidSP 24 June 2026

Title: Early and intensive interventions for children with genetic syndromes
/ = Term from the MeSH controlled vocabulary; .sh = Term from the MeSH controlled vocabulary; exp = Term from MeSH including terms found below this term in the MeSH hierarchy; .ti,ab = Title or abstract; .tw = Title or abstract; .kf = Keywords; .kw = Keywords, exact; .bt = Book title. NLM Bookshelf; .pt = Publication type; .ja = Journal abbreviation; .af = All fields; adjn = Adjacent. Proximity operator retrieving adjacent words, adj3 retrieves records with search terms within two terms from each other; * or $ = Truncation; “ “ = Citation Marks; searches for an exact phrase
Search terms Items found
Population:
1. Down Syndrome/ or Fragile X Syndrome/ or Trisomy 13 Syndrome/ or Rett Syndrome/ or Trisomy 18 Syndrome/ or Williams Syndrome/ or Angelman Syndrome/ or Prader-Willi Syndrome/ or Cri-du-Chat Syndrome/ 44 590
2. ("down* syndrome" or (trisomy adj2 "21") or "fragile x syndrome" or "martin-bell syndrome" or "1p36 deletion" or "patau* syndrome" or (trisomy adj2 "13") or "rett* syndrome" or "edward* syndrome" or (trisomy adj2 "18") or "williams syndrom" or "williams-beuren* syndrome" or "angelman* syndrome" or "prader-willi* syndrome" or "dravet* syndrome" or "marker chromosome 15" or "isodicentric 15" or "cri-du-chat syndrome" or "5p deletion syndrome").ab,bt,kf,ti. 54 373
3. exp Child/ or exp Infant/ or Pediatrics/ 3 032 783
4. (child* or kid* or toddler* or boy* or girl* or preshool* or pre-shool* or infant* or newborn* or new-born* or neonat* or baby* or babies or p?ediatric*).ab,bt,kf,ti. 3 651 856
Study types: systematic reviews and meta-analysis / randomized controlled trials1
5. (Systematic Review/ or Meta-Analysis/ or Cochrane Database Syst Rev.ja. or (((systematic or realist or integrative or mixed method* or umbrella) adj4 (review)) or "meta analys*" or metaanalys*).ti,bt,ab.) not (editorial/ or letter/ or case reports/) 628 490
Combined sets:
6. 1 or 2 64 826
7. 3 or 4 4 710 561
8. 6 and 7 32 520
Final result
9. 8 and 5 488

1. Cochrane Highly Sensitive Search Strategy for identifying randomized trials in MEDLINE: sensitivity- and precision-maximizing version (2008 revision); Ovid format. The Cochrane Collaboration; 2008. Available from: https://training.cochrane.org/handbook/current/chapter-04-technical-supplement-searching-and-selecting-studies#section-3-6-1. with modifications: the following terms are added: clinical trial, phase iii.pt. ; randomised.ab. ; ("Phase 3" or "phase3" or "phase III" or P3 or "PIII").ti,ab,kw.

Scopus via scopus.com 24 June 2026

Title: Early and intensive interventions for children with genetic syndromes
TITLE-ABS-KEY = Title, abstract or keywords (including indexed keywords and author keywords); ALL = All fields; W/n = Within. Proximity operator retrieving terms within n words from each other; PRE/n = Precedes by. Proximity operator, the first term in the search must precede the second by n words; LIMIT-TO (X) = Includes only results of specified type, e.g., publication type or time range; DOCTYPE = Publication type; “re” = review; “le” = letter; “ed” = editorial; “ch” = book chapter; “cp” = conference proceedings; * = Truncation; “ “ = Citation Marks; searches for an exact phrase
Search terms Items found
Population:
1. TITLE-ABS-KEY ("down* syndrome" OR ( trisomy W/1 "21") OR "fragile x syndrome" OR "martin-bell syndrome" OR "1p36 deletion" OR "patau* syndrome" OR (trisomy W/1 "13") OR "rett* syndrome" OR "edward* syndrome" OR (trisomy W/1 "18") OR "williams syndrom" OR "williams-beuren* syndrome" OR "angelman* syndrome" OR "prader-willi* syndrome" OR "dravet* syndrome" OR "marker chromosome 15" OR "isodicentric 15" OR "cri-du-chat syndrome" OR "5p deletion syndrome" ) 92 442
2. TITLE-ABS-KEY (child* OR kid* OR toddler* OR boy* OR girl* OR preshool* OR pre-shool* OR kindergarten* OR infant* OR newborn* OR new-born* OR neonat* OR baby* OR babies OR p?ediatric*) 7 167 880
Study types: systematic reviews and meta-analysis / randomized controlled trials
3. TITLE-ABS-KEY (((systematic OR realist OR integrative OR “mixed method*” or umbrella) W/3 review) OR "meta analy*" OR metaanaly*) AND (EXCLUDE (DOCTYPE, “le”) OR EXCLUDE (DOCTYPE, “ed”) OR EXCLUDE (DOCTYPE, “ch”) OR EXCLUDE (DOCTYPE, “cp”)) 945 870
Combined sets:
4. 1 and 2 47 662
Final result
5. 4 and 3 1077

PSYCINFO via EBSCO 24 June 2026

Title: Early and intensive interventions for children with genetic syndromes
TI = Title; AB = Abstract; SU = Keyword, exact or part (including all other fields for indexed and author keywords); DE = Exact keyword; TX = All text; MR = Methodology; Nn = Near. Proximity operator retrieving terms within n words from each other; * = Truncation; “ “ = Citation Marks; searches for an exact phrase
Search terms Items found
Population:
1. TI ("down* syndrome" OR (trisomy N1 "21") OR "fragile x syndrome" OR "martin-bell syndrome" OR "1p36 deletion" OR "patau* syndrome" OR (trisomy N1 "13") OR "rett* syndrome" OR "edward* syndrome" OR (trisomy N1 "18") OR "williams syndrom" OR "williams-beuren* syndrome" OR "angelman* syndrome" OR "prader-willi* syndrome" OR "dravet* syndrome" OR "marker chromosome 15" OR "isodicentric 15" OR "cri-du-chat syndrome" OR "5p deletion syndrome") OR AB ("down* syndrome" OR (trisomy N1 "21") OR "fragile x syndrome" OR "martin-bell syndrome" OR "1p36 deletion" OR "patau* syndrome" OR (trisomy N1 "13") OR "rett* syndrome" OR "edward* syndrome" OR (trisomy N1 "18") OR "williams syndrom" OR "williams-beuren* syndrome" OR "angelman* syndrome" OR "prader-willi* syndrome" OR "dravet* syndrome" OR "marker chromosome 15" OR "isodicentric 15" OR "cri-du-chat syndrome" OR "5p deletion syndrome") OR SU ("down* syndrome" OR (trisomy N1 "21") OR "fragile x syndrome" OR "martin-bell syndrome" OR "1p36 deletion" OR "patau* syndrome" OR (trisomy N1 "13") OR "rett* syndrome" OR "edward* syndrome" OR (trisomy N1 "18") OR "williams syndrom" OR "williams-beuren* syndrome" OR "angelman* syndrome" OR "prader-willi* syndrome" OR "dravet* syndrome" OR "marker chromosome 15" OR "isodicentric 15" OR "cri-du-chat syndrome" OR "5p deletion syndrome") 15 537
2. TI (child* OR kid* OR toddler* OR boy* OR girl* OR preshool* OR pre-shool* OR kindergarten* OR infant* OR newborn* OR new-born* OR neonat* OR baby* OR babies OR p?ediatric*) OR AB (child* OR kid* OR toddler* OR boy* OR girl* OR preshool* OR pre-shool* OR kindergarten* OR infant* OR newborn* OR new-born* OR neonat* OR baby* OR babies OR p?ediatric*) OR SU (child* OR kid* OR toddler* OR boy* OR girl* OR preshool* OR pre-shool* OR kindergarten* OR infant* OR newborn* OR new-born* OR neonat* OR baby* OR babies OR p?ediatric*) 1 114 463
Study types: systematic reviews and meta-analysis / randomized controlled trials
3. (TI (((systematic OR realist OR integrative OR “mixed method*” OR umbrella) N3 review) OR "meta analys*" OR metaanalys*) OR AB (((systematic OR realist OR integrative OR “mixed method*” OR umbrella) N3 review) OR "meta analys*" OR metaanalys*) OR SU (((systematic OR realist OR integrative OR “mixed method*” OR umbrella) N3 review) OR "meta analys*" OR metaanalys*)) OR (MR "Systematic Review" OR MR "meta analysis") 128 099
Combined sets:
4. 1 AND 2 8721
Final result
5. 4 AND 3 113
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