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

Year Number of Results
1971 1
1973 1
1975 2
1976 1
1977 2
1978 3
1979 1
1980 6
1981 3
1982 4
1983 8
1984 2
1985 8
1986 13
1987 9
1988 7
1989 12
1990 17
1991 14
1992 15
1993 24
1994 26
1995 22
1996 27
1997 26
1998 29
1999 40
2000 41
2001 39
2002 43
2003 44
2004 68
2005 74
2006 77
2007 92
2008 98
2009 104
2010 101
2011 133
2012 142
2013 180
2014 174
2015 194
2016 205
2017 200
2018 221
2019 277
2020 294
2021 331
2022 298
2023 327
2024 164

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3,635 results

Results by year

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Page 1
Clinical and genetic characterization of CACNA1A-related disease.
Lipman AR, Fan X, Shen Y, Chung WK. Lipman AR, et al. Clin Genet. 2022 Oct;102(4):288-295. doi: 10.1111/cge.14180. Epub 2022 Jun 26. Clin Genet. 2022. PMID: 35722745 Free PMC article.
With increasing use of clinical genetic testing, associations have expanded to include developmental delay, epilepsy, paroxysmal dystonia, and neuropsychiatric disorders. ...Severity score was significantly higher for predicted GoF variants, variants i …
With increasing use of clinical genetic testing, associations have expanded to include developmental delay, epilepsy, paroxysm …
How to use the Bayley Scales of Infant and Toddler Development.
Del Rosario C, Slevin M, Molloy EJ, Quigley J, Nixon E. Del Rosario C, et al. Arch Dis Child Educ Pract Ed. 2021 Apr;106(2):108-112. doi: 10.1136/archdischild-2020-319063. Epub 2020 Aug 28. Arch Dis Child Educ Pract Ed. 2021. PMID: 32859738 Review.
The rigorous psychometric properties of the tool are attributed to the carefully standardised normative sample and quantitative scoring system. It is a common end-point assessment used in neonatal trials and is routinely used in a clinical setting to assess the deve …
The rigorous psychometric properties of the tool are attributed to the carefully standardised normative sample and quantitative scoring …
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B. Hebebrand M, et al. Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Orphanet J Rare Dis. 2019. PMID: 30744660 Free PMC article. Review.
BACKGROUND: The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. It is an autosomal dominant disorder mostly caused by de novo variants in TUBA1A. R …
BACKGROUND: The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental …
The Beneficial Effects of Massage on Motor Development and Sensory Processing in Young Children with Developmental Delay: A Randomized Control Trial Study.
Lu WP, Tsai WH, Lin LY, Hong RB, Hwang YS. Lu WP, et al. Dev Neurorehabil. 2019 Oct;22(7):487-495. doi: 10.1080/17518423.2018.1537317. Epub 2018 Oct 30. Dev Neurorehabil. 2019. PMID: 30376388 Clinical Trial.
Purpose: We investigated the effects of massage on young children with developmental delay but no clear diagnosis (e.g., cerebral palsy, genetic diseases, or autism). ...Results: The results of analysis of covariance revealed that the massage group exhibited a great …
Purpose: We investigated the effects of massage on young children with developmental delay but no clear diagnosis (e.g., cereb …
Cerebral palsy--don't delay.
McIntyre S, Morgan C, Walker K, Novak I. McIntyre S, et al. Dev Disabil Res Rev. 2011;17(2):114-29. doi: 10.1002/ddrr.1106. Dev Disabil Res Rev. 2011. PMID: 23362031 Review.
Cerebral palsy (CP) is the most severe physical disability within the spectrum of developmental delay. CP is an umbrella term describing a group of motor disorders, accompanied by many associated impairments. ...It is important to discriminate as early as possible b …
Cerebral palsy (CP) is the most severe physical disability within the spectrum of developmental delay. CP is an umbrella term …
Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P. Claerhout H, et al. J Inherit Metab Dis. 2018 Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4. Epub 2017 Oct 4. J Inherit Metab Dis. 2018. PMID: 28980090 Review.
All patients presented with neurological abnormalities, such as neonatal axial hypotonia and/or peripheral hypertonia (100%), (pharmacoresistant) seizures (84%), or developmental delay (97%). Feeding problems were also common. As found in our review, measurement of …
All patients presented with neurological abnormalities, such as neonatal axial hypotonia and/or peripheral hypertonia (100%), (pharmacoresis …
Diagnosis and clinical management of duplications and deletions.
Capalbo A, Rienzi L, Ubaldi FM. Capalbo A, et al. Fertil Steril. 2017 Jan;107(1):12-18. doi: 10.1016/j.fertnstert.2016.11.002. Fertil Steril. 2017. PMID: 28040093 Free article. Review.
A particular class, the microdeletions and microduplications, which alter <5 Mb, have been extensively associated with developmental delay and intellectual disability. Although their prevalence in pregnancies and newborn is relatively low, their estimates in prei …
A particular class, the microdeletions and microduplications, which alter <5 Mb, have been extensively associated with developmental …
Phototherapy and risk of developmental delay: the Japan Environment and Children's Study.
Hotta M, Ueda K, Ikehara S, Tanigawa K, Nakayama H, Wada K, Kimura T, Ozono K, Sobue T, Iso H; Japan Environment, Children’s Study Group. Hotta M, et al. Eur J Pediatr. 2023 May;182(5):2139-2149. doi: 10.1007/s00431-022-04785-1. Epub 2023 Feb 27. Eur J Pediatr. 2023. PMID: 36847872
This observational cohort study aimed to examine the association between the duration of phototherapy for neonatal jaundice and the risk of developmental delay at 3 years of age using nationwide birth cohort data. ...However, an association between photothera …
This observational cohort study aimed to examine the association between the duration of phototherapy for neonatal jaundice and the r …
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart J, Čokolić Petrović D, Espinoza I, Ortigoza-Escobar JD, Martemyanov KA; GNAO1-Study Group. Domínguez-Carral J, et al. Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37548038
OBJECTIVE: GNAO1-related disorders (OMIM #615473 and #617493), caused by variants in the GNAO1 gene, are characterized by developmental delay or intellectual disability, hypotonia, movement disorders, and epilepsy. Neither a genotype-phenotype correlation nor a clea …
OBJECTIVE: GNAO1-related disorders (OMIM #615473 and #617493), caused by variants in the GNAO1 gene, are characterized by developmental …
Early detection of autism using digital behavioral phenotyping.
Perochon S, Di Martino JM, Carpenter KLH, Compton S, Davis N, Eichner B, Espinosa S, Franz L, Krishnappa Babu PR, Sapiro G, Dawson G. Perochon S, et al. Nat Med. 2023 Oct;29(10):2489-2497. doi: 10.1038/s41591-023-02574-3. Epub 2023 Oct 2. Nat Med. 2023. PMID: 37783967 Free PMC article.
Here we report findings from a multiclinic, prospective study assessing the accuracy of an autism screening digital application (app) administered during a pediatric well-child visit to 475 (17-36 months old) children (269 boys and 206 girls), of which 49 were diagnosed with auti …
Here we report findings from a multiclinic, prospective study assessing the accuracy of an autism screening digital application (app) admini …
3,635 results