Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1997 1
2001 1
2003 1
2004 1
2006 2
2008 2
2013 1
2014 2
2015 1
2016 1
2020 1
2022 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

17 results

Results by year

Filters applied: . Clear all
Page 1
Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.
St John M, Amor DJ, Morgan AT. St John M, et al. Am J Med Genet A. 2022 Dec;188(12):3389-3400. doi: 10.1002/ajmg.a.62899. Epub 2022 Jul 27. Am J Med Genet A. 2022. PMID: 35892268
Pathogenic KAT6A variants cause syndromic neurodevelopmental disability. "Speech delay" is reported, yet none have examined specific speech and language features of KAT6A syndrome. ...Verbal participants (13/49) displayed complex and co-occurring speech diagnoses re …
Pathogenic KAT6A variants cause syndromic neurodevelopmental disability. "Speech delay" is reported, yet none have examined specific …
Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.
Guerrini R, Carrozzo R, Rinaldi R, Bonanni P. Guerrini R, et al. Paediatr Drugs. 2003;5(10):647-61. doi: 10.2165/00148581-200305100-00001. Paediatr Drugs. 2003. PMID: 14510623 Review.
Clinical findings present in all patients include developmental delay, which becomes apparent by 6-12 months of age, severely impaired expressive language, ataxic gait, tremulousness of limbs, and a typical behavioral profile, including a happy demeano …
Clinical findings present in all patients include developmental delay, which becomes apparent by 6-12 months of age, severely …
An Economic Evaluation of Australia's Newborn Hearing Screening Program: A Within-Study Cost-Effectiveness Analysis.
Sharma R, Gu Y, Sinha K, Ching TYC, Marnane V, Gold L, Wake M, Wang J, Parkinson B. Sharma R, et al. Ear Hear. 2022 May/Jun;43(3):972-983. doi: 10.1097/AUD.0000000000001153. Ear Hear. 2022. PMID: 34772837 Free PMC article.
Outcome measures included quality-adjusted life years (QALYs) and four language and communication-related outcomes: Peabody Picture Vocabulary Test, Wechsler Nonverbal Scale of Ability, Progressive Achievement Test, and comprehensive, expressive, and total langua …
Outcome measures included quality-adjusted life years (QALYs) and four language and communication-related outcomes: Peabody Picture V …
Universal newborn hearing screening: systematic review to update the 2001 US Preventive Services Task Force Recommendation.
Nelson HD, Bougatsos C, Nygren P; 2001 US Preventive Services Task Force. Nelson HD, et al. Pediatrics. 2008 Jul;122(1):e266-76. doi: 10.1542/peds.2007-1422. Pediatrics. 2008. PMID: 18595973 Review.
OBJECTIVE: This review is an update for the US Preventive Services Task Force on universal newborn hearing screening to detect moderate-to-severe permanent, bilateral congenital hearing loss. We focus on 3 key questions: (1) Among infants identified by universal screening …
OBJECTIVE: This review is an update for the US Preventive Services Task Force on universal newborn hearing screening to detect moderate-to- …
Risk stratification helps identify congenital diaphragmatic hernia (CDH) infants in need of formal neurodevelopmental assessment: Observations from a structured, interdisciplinary long-term follow-up clinic.
Hassan M, Patel D, LaRusso K, Koclas L, Smith-Morin Ot M, Shapiro AJ, Sant'Anna A, Altit G, Beauseigle S, Puligandla PS. Hassan M, et al. J Pediatr Surg. 2022 May;57(5):846-850. doi: 10.1016/j.jpedsurg.2021.12.048. Epub 2022 Jan 13. J Pediatr Surg. 2022. PMID: 35090718
Risk stratification identified 2(2%), 7(7%), and 18(18%) patients with NDD in the low, moderate and high-risk groups, respectively. Language delay (2 low; 6 moderate; 10 high) was the most prevalent. Three patients had both expressive and receptive languag …
Risk stratification identified 2(2%), 7(7%), and 18(18%) patients with NDD in the low, moderate and high-risk groups, respectively. Langu …
Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations.
Mertz LG, Thaulov P, Trillingsgaard A, Christensen R, Vogel I, Hertz JM, Ostergaard JR. Mertz LG, et al. Res Dev Disabil. 2014 Jul;35(7):1742-7. doi: 10.1016/j.ridd.2014.02.018. Epub 2014 Mar 19. Res Dev Disabil. 2014. PMID: 24656292
Children with a deletion (Class I and Class II) showed significantly reduced developmental age in terms of visual perception, receptive language, and expressive language when compared to those with a UBE3A mutation and pUPD. Within all subgroups, expressiv …
Children with a deletion (Class I and Class II) showed significantly reduced developmental age in terms of visual perception, receptive l …
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E. Grams SE, et al. Am J Med Genet A. 2016 Apr;170A(4):967-77. doi: 10.1002/ajmg.a.37519. Epub 2015 Dec 22. Am J Med Genet A. 2016. PMID: 26692240
Our data, with previously published reports, suggest that duplications involving SHROOM4 and DGKK may represent a new syndromic X-linked ID critical region associated with mild to severe ID, speech delay +/- dysarthria, attention deficit disorder, precocious puberty …
Our data, with previously published reports, suggest that duplications involving SHROOM4 and DGKK may represent a new syndromic X-linked ID …
Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity.
Abbeduto L, Berry-Kravis E, Sterling A, Sherman S, Edgin JO, McDuffie A, Hoffmann A, Hamilton D, Nelson M, Aschkenasy J, Thurman AJ. Abbeduto L, et al. J Neurodev Disord. 2020 Mar 24;12(1):10. doi: 10.1186/s11689-020-09313-6. J Neurodev Disord. 2020. PMID: 32204695 Free PMC article.
BACKGROUND: The evaluation of treatment efficacy for individuals with fragile X syndrome (FXS) or intellectual disability (ID) more generally has been hampered by the lack of adequate outcome measures. We evaluated expressive language sampling (ELS) as a procedure f …
BACKGROUND: The evaluation of treatment efficacy for individuals with fragile X syndrome (FXS) or intellectual disability (ID) more generall …
The efficacy of treatment for children with developmental speech and language delay/disorder: a meta-analysis.
Law J, Garrett Z, Nye C. Law J, et al. J Speech Lang Hear Res. 2004 Aug;47(4):924-43. doi: 10.1044/1092-4388(2004/069). J Speech Lang Hear Res. 2004. PMID: 15324296
A meta-analysis was carried out of interventions for children with primary developmental speech and language delays/disorders. The data were categorized depending on the control group used in the study (no treatment, general stimulation, or routine speech and lan …
A meta-analysis was carried out of interventions for children with primary developmental speech and language delays/disorders. …
Early treatment is associated with improved cognition in Hurler syndrome.
Poe MD, Chagnon SL, Escolar ML. Poe MD, et al. Ann Neurol. 2014 Nov;76(5):747-53. doi: 10.1002/ana.24246. Epub 2014 Oct 8. Ann Neurol. 2014. PMID: 25103575
RESULTS: Younger age at transplantation was associated with improved cognitive function (p = 0.001), receptive and expressive language (p = 0.004 and p = 0.01), and adaptive behavior (p = 0.03). INTERPRETATION: Early age at transplantation is a strong predictor of c …
RESULTS: Younger age at transplantation was associated with improved cognitive function (p = 0.001), receptive and expressive lang …
17 results