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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements"
Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
Here we identify heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facia …
Here we identify heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual d …
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA. Pérez-Dueñas B, et al. Mov Disord. 2022 Nov;37(11):2197-2209. doi: 10.1002/mds.29182. Epub 2022 Aug 25. Mov Disord. 2022. PMID: 36054588 Free PMC article.
Participating clinicians completed standardized proformas capturing demographic, clinical, and genetic data. Two pediatric movement disorder experts reviewed available video footage, classifying hyperkinetic movements according to published criteria. ...Those …
Participating clinicians completed standardized proformas capturing demographic, clinical, and genetic data. Two pediatric movement disor …
Movement disorders.
Colcher A. Colcher A. Clin Podiatr Med Surg. 1999 Jan;16(1):127-39. Clin Podiatr Med Surg. 1999. PMID: 9929775 Review.
The hyperkinetic disorders are also marked by an impairment of balance, caused by rapid or uncontrollable movements of the limbs or trunk, that interferes with the normal rhythm of walking. The gaits of different movement disorders help the clinician t …
The hyperkinetic disorders are also marked by an impairment of balance, caused by rapid or uncontrollable movements of …
Diagnosis of hyperkinetic disorder among children in Norway.
Surén P, Thorstensen AG, Tørstad M, Emhjellen PE, Furu K, Biele G, Aase H, Stoltenberg C, Zeiner P, Bakken IJ, Reichborn-Kjennerud T. Surén P, et al. Tidsskr Nor Laegeforen. 2018 Nov 20;138(20). doi: 10.4045/tidsskr.18.0418. Print 2018 Dec 11. Tidsskr Nor Laegeforen. 2018. PMID: 30539620 Free article. English, Norwegian.
BACKGROUND: Hyperkinetic disorder is one of the most frequently used psychiatric diagnoses among children and adolescents in Norway. ...We reviewed medical records from specialist mental health services for children and adolescents and assessed whether the diagnoses …
BACKGROUND: Hyperkinetic disorder is one of the most frequently used psychiatric diagnoses among children and adolescents in N …
The MECP2 duplication syndrome.
Ramocki MB, Tavyev YJ, Peters SU. Ramocki MB, et al. Am J Med Genet A. 2010 May;152A(5):1079-88. doi: 10.1002/ajmg.a.33184. Am J Med Genet A. 2010. PMID: 20425814 Free PMC article. Review.
In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for the care of patients with this X-linked neurodevelopmental disorder. MECP2 duplication syndrome is …
In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, in …
Definition and classification of hyperkinetic movements in childhood.
Sanger TD, Chen D, Fehlings DL, Hallett M, Lang AE, Mink JW, Singer HS, Alter K, Ben-Pazi H, Butler EE, Chen R, Collins A, Dayanidhi S, Forssberg H, Fowler E, Gilbert DL, Gorman SL, Gormley ME Jr, Jinnah HA, Kornblau B, Krosschell KJ, Lehman RK, MacKinnon C, Malanga CJ, Mesterman R, Michaels MB, Pearson TS, Rose J, Russman BS, Sternad D, Swoboda KJ, Valero-Cuevas F. Sanger TD, et al. Mov Disord. 2010 Aug 15;25(11):1538-49. doi: 10.1002/mds.23088. Mov Disord. 2010. PMID: 20589866 Free PMC article. Review.
Hyperkinetic movements are unwanted or excess movements that are frequently seen in children with neurologic disorders. ...Stereotypies are repetitive, simple movements that can be voluntarily suppressed. We provide recommended techniques for cl …
Hyperkinetic movements are unwanted or excess movements that are frequently seen in children with neurologic disorde …
Speech-Language Pathology Evaluation and Management of Hyperkinetic Disorders Affecting Speech and Swallowing Function.
Barkmeier-Kraemer JM, Clark HM. Barkmeier-Kraemer JM, et al. Tremor Other Hyperkinet Mov (N Y). 2017 Sep 21;7:489. doi: 10.7916/D8Z32B30. eCollection 2017. Tremor Other Hyperkinet Mov (N Y). 2017. PMID: 28983422 Free PMC article. Review.
BACKGROUND: Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. ...DISCUSSION: SLPs play an important role in contributing to the differential diag …
BACKGROUND: Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and a …
Childhood hyperactivity.
Taylor EA. Taylor EA. Br J Psychiatry. 1986 Nov;149:562-73. doi: 10.1192/bjp.149.5.562. Br J Psychiatry. 1986. PMID: 3545357 Review.
Severe degrees of inattentive and restless behaviour in childhood are a risk factor for later psychological disorders. They have many causes, but a pattern of severe and pervasive hyperactivity with poor concentration in the absence of affective or psychotic disorders …
Severe degrees of inattentive and restless behaviour in childhood are a risk factor for later psychological disorders. They have many …
Chorea and ballism.
Burnett L, Jankovic J. Burnett L, et al. Curr Opin Neurol Neurosurg. 1992 Jun;5(3):308-13. Curr Opin Neurol Neurosurg. 1992. PMID: 1535815 Review.
Chorea and ballism are hyperkinetic movement disorders which can be caused by a variety of conditions including metabolic abnormalities, neurodegenerative and immunologic disorders, as well as structural lesions. ...Chorea is increasingly recognized as a symp …
Chorea and ballism are hyperkinetic movement disorders which can be caused by a variety of conditions including metabolic abno …
1,110 results