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

Year Number of Results
1976 1
1979 2
1982 1
1985 2
1986 2
1987 1
1989 4
1990 1
1991 2
1993 1
1995 1
1996 1
1997 1
1998 6
1999 4
2000 3
2001 6
2002 1
2003 3
2004 5
2005 4
2006 4
2007 4
2008 8
2009 4
2010 11
2011 12
2012 13
2013 17
2014 14
2015 6
2016 22
2017 14
2018 16
2019 15
2020 25
2021 25
2022 27
2023 18
2024 6

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270 results

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Page 1
Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance.
Rosso M, Fremion E, Santoro SL, Oreskovic NM, Chitnis T, Skotko BG, Santoro JD. Rosso M, et al. Pediatrics. 2020 Jun;145(6):e20192939. doi: 10.1542/peds.2019-2939. Pediatrics. 2020. PMID: 32471843 Review.
Down syndrome disintegrative disorder (DSDD), a developmental regression in children with Down syndrome (DS), is a clinical entity that is characterized by a loss of previously acquired adaptive, cognitive, and social functioning in persons with DS usually in adoles …
Down syndrome disintegrative disorder (DSDD), a developmental regression in children with Down syndrome (DS), is a clinical en …
Autoimmune Encephalitis.
Jafarpour S, Santoro JD. Jafarpour S, et al. Pediatr Rev. 2022 Apr 1;43(4):198-211. doi: 10.1542/pir.2021-005096. Pediatr Rev. 2022. PMID: 35362030
Individuals present with a variety of symptoms, including altered mental status, behavioral changes, irritability, insomnia, developmental regression, seizures, dyskinetic movements, and autonomic instability. ...
Individuals present with a variety of symptoms, including altered mental status, behavioral changes, irritability, insomnia, developmenta …
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F. Stenton SL, et al. Ann Neurol. 2022 Apr;91(4):466-482. doi: 10.1002/ana.26313. Epub 2022 Mar 6. Ann Neurol. 2022. PMID: 35094435
Elevated serum lactate (144/195), global developmental delay (142/209), and developmental regression (103/209) were most frequent. Discriminating neuroimaging and/or clinical features were identified for MT-ATP6 (m.9176T>C), MT-ND5, PDHA1, SUCLG1, and SURF1. ...
Elevated serum lactate (144/195), global developmental delay (142/209), and developmental regression (103/209) were most frequ …
Alpers-Huttenlocher syndrome.
Saneto RP, Cohen BH, Copeland WC, Naviaux RK. Saneto RP, et al. Pediatr Neurol. 2013 Mar;48(3):167-78. doi: 10.1016/j.pediatrneurol.2012.09.014. Pediatr Neurol. 2013. PMID: 23419467 Free PMC article. Review.
The classic clinical triad of seizures, liver degeneration, and progressive developmental regression helps define the disorder, but a wide range of clinical expression occurs. ...
The classic clinical triad of seizures, liver degeneration, and progressive developmental regression helps define the disorder …
Benign spasms of infancy: a mimicker of infantile epileptic disorders.
Ghossein J, Pohl D. Ghossein J, et al. Epileptic Disord. 2019 Dec 1;21(6):585-589. doi: 10.1684/epd.2019.1116. Epileptic Disord. 2019. PMID: 31843733
Ictal and interictal EEG recordings are normal. BSI are not associated with developmental regression and do not require treatment. Distinction between BSI and infantile epileptic disorders, such as epileptic spasms or myoclonic epilepsy of infancy, can be challengin …
Ictal and interictal EEG recordings are normal. BSI are not associated with developmental regression and do not require treatm …
Mucopolysaccharidoses and mucolipidoses.
Wraith JE. Wraith JE. Handb Clin Neurol. 2013;113:1723-9. doi: 10.1016/B978-0-444-59565-2.00042-3. Handb Clin Neurol. 2013. PMID: 23622395 Review.
The mucopolysaccharidoses (MPS) and mucolipidoses (ML) are progressive storage disorders that share many clinical features varying from facial dysmorphism, bone dysplasia, hepatosplenomegaly, neurological abnormalities, developmental regression, and a reduced life e …
The mucopolysaccharidoses (MPS) and mucolipidoses (ML) are progressive storage disorders that share many clinical features varying from faci …
Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.
Gonzalez JN, Goldman S, Carter MT, Bain JM. Gonzalez JN, et al. Genes (Basel). 2023 May 26;14(6):1154. doi: 10.3390/genes14061154. Genes (Basel). 2023. PMID: 37372334 Free PMC article.
Classic Rett Syndrome presents in early childhood with a period of developmental regression, loss of purposeful hand skills along with hand stereotypies, gait abnormalities, and loss of acquired speech. ...
Classic Rett Syndrome presents in early childhood with a period of developmental regression, loss of purposeful hand skills al …
Neurobiology of autism.
Rapin I, Katzman R. Rapin I, et al. Ann Neurol. 1998 Jan;43(1):7-14. doi: 10.1002/ana.410430106. Ann Neurol. 1998. PMID: 9450763 Review.
Attention and sleep are affected, and one third of individuals experience epilepsy by adulthood. Whether subclinical epilepsy plays a role in the developmental regression of the one third of the toddlers who lose their language skills and become autistic remains to …
Attention and sleep are affected, and one third of individuals experience epilepsy by adulthood. Whether subclinical epilepsy plays a role i …
Missed Opportunities and the Impact of the Pandemic.
Sabapathy T, Bansal R, Bojorquez L, Salley B, Gianakon JG, Gelineau-Morel R, Nyp SS. Sabapathy T, et al. J Dev Behav Pediatr. 2022 Apr 1;43(3):176-179. doi: 10.1097/DBP.0000000000001065. Epub 2022 Jan 26. J Dev Behav Pediatr. 2022. PMID: 35085180 Free PMC article.
Benjamin is a 9-month-old, former 36-week gestation infant who presented to the high-risk infant follow-up clinic with parental concern for developmental regression. His mother reported that Benjamin seemed to be developing typically, but over the past 2 months, he …
Benjamin is a 9-month-old, former 36-week gestation infant who presented to the high-risk infant follow-up clinic with parental concern for …
A 15-Month-Old With Developmental Regression and Hypotonia.
Chan AP, Jun-Ihn E, Shrestha G, Rao L, Vahabnezhad E, Vargas J. Chan AP, et al. Clin Pediatr (Phila). 2023 May;62(4):368-371. doi: 10.1177/00099228221124678. Epub 2022 Sep 22. Clin Pediatr (Phila). 2023. PMID: 36146920 No abstract available.
270 results