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Quoted phrase not found in phrase index: "Severe neonatal hypotonia improving with age"
Page 1
Phenotype of GABA-transaminase deficiency.
Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL. Koenig MK, et al. Neurology. 2017 May 16;88(20):1919-1924. doi: 10.1212/WNL.0000000000003936. Epub 2017 Apr 14. Neurology. 2017. PMID: 28411234 Free PMC article. Review.
One patient, with a milder phenotype, began treatment at age 21 months and has continued for 20 months with improved alertness and less excessive adventitious movements. The second patient had a more severe phenotype and was 7 years of age at initiatio …
One patient, with a milder phenotype, began treatment at age 21 months and has continued for 20 months with improved alertness …
Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.
Yang-Li D, Fei-Hong L, Hui-Wen Z, Ming-Sheng M, Xiao-Ping L, Li L, Yi W, Qing Z, Yong-Hui J, Chao-Chun Z; PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society; Zhejiang Expert Group for PWS. Yang-Li D, et al. Orphanet J Rare Dis. 2022 Jun 13;17(1):221. doi: 10.1186/s13023-022-02302-z. Orphanet J Rare Dis. 2022. PMID: 35698200 Free PMC article. Review.
Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical manifestations of PWS vary with age. It is characterized by sever …
Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally in …
Trihexyphenidyl for dystonia in cerebral palsy.
Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K. Harvey AR, et al. Cochrane Database Syst Rev. 2018 May 15;5(5):CD012430. doi: 10.1002/14651858.CD012430.pub2. Cochrane Database Syst Rev. 2018. PMID: 29763510 Free PMC article. Review.
One commonly occurring movement disorder amongst those with cerebral palsy is dystonia: sustained or intermittent involuntary muscle spasms and contractions that cause twisting, repetitive movements and abnormal postures. ...SELECTION CRITERIA: We included randomised contr …
One commonly occurring movement disorder amongst those with cerebral palsy is dystonia: sustained or intermittent involuntary muscle …
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE. van Geest FS, et al. J Clin Endocrinol Metab. 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. J Clin Endocrinol Metab. 2022. PMID: 34679181 Free PMC article.
RESULTS: From October 15, 2014 to January 1, 2021, 67 patients (median baseline age 4.6 years; range, 0.5-66) were treated up to 6 years (median 2.2 years; range, 0.2-6.2). ...Heart-rate-for-age decreased (mean difference 0.64 SD; 95% CI, 0.29-0.98; P = 0.0005). ...
RESULTS: From October 15, 2014 to January 1, 2021, 67 patients (median baseline age 4.6 years; range, 0.5-66) were treated up to 6 ye …
Neonatal adenoviral infection: a seventeen year experience and review of the literature.
Ronchi A, Doern C, Brock E, Pugni L, Sánchez PJ. Ronchi A, et al. J Pediatr. 2014 Mar;164(3):529-35.e1-4. doi: 10.1016/j.jpeds.2013.11.009. Epub 2013 Dec 18. J Pediatr. 2014. PMID: 24359940 Review.
Neonates were identified by review of the CMC Virology Laboratory's prospective database of all positive adenovirus tests performed in the inpatient and ambulatory settings, and at PMH, of a prospective neonatal database that included all neonatal intensive care uni …
Neonates were identified by review of the CMC Virology Laboratory's prospective database of all positive adenovirus tests performed in the i …
Incontinence and psychological symptoms in Phelan-McDermid syndrome.
Hussong J, Wagner C, Curfs L, von Gontard A. Hussong J, et al. Neurourol Urodyn. 2020 Jan;39(1):310-318. doi: 10.1002/nau.24197. Epub 2019 Oct 29. Neurourol Urodyn. 2020. PMID: 31663160
About 600 cases have been identified worldwide. PMD is characterized by neonatal hypotonia, moderate/severe intellectual impairment, impaired expressive language, and typical dysmorphic features. ...Sixty-eight percent had further physical disabilities. CONCL …
About 600 cases have been identified worldwide. PMD is characterized by neonatal hypotonia, moderate/severe intellectua …
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ. Smith A, et al. J Med Genet. 1996 Feb;33(2):107-12. doi: 10.1136/jmg.33.2.107. J Med Genet. 1996. PMID: 8929945 Free PMC article. Review.
Epilepsy was present in 26/27 (96%) with onset by the third year of life in 20 patients (83%). Improvement in epilepsy was reported in 11/16 patients (69%) with age. ...Five patients could not walk independently. Of the remaining 22 who could walk, age of ons …
Epilepsy was present in 26/27 (96%) with onset by the third year of life in 20 patients (83%). Improvement in epilepsy was reported i …
Measuring body composition and energy expenditure in children with severe neurologic impairment and intellectual disability.
Rieken R, van Goudoever JB, Schierbeek H, Willemsen SP, Calis EA, Tibboel D, Evenhuis HM, Penning C. Rieken R, et al. Am J Clin Nutr. 2011 Sep;94(3):759-66. doi: 10.3945/ajcn.110.003798. Epub 2011 Jul 27. Am J Clin Nutr. 2011. PMID: 21795444 Free article.
BACKGROUND: Accurate prediction equations for estimating body composition and total energy expenditure (TEE) in children with severe neurologic impairment and intellectual disability are currently lacking. ...Group-specific regression equations were developed by using forw …
BACKGROUND: Accurate prediction equations for estimating body composition and total energy expenditure (TEE) in children with severe …
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Maas RR, et al. Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110. Ann Neurol. 2017. PMID: 29205472 Free PMC article.
With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype and time course. Severe, reversible neonatal liver dysfunction and hypoglycemia were seen in >40% of all cases. Starting at a median ag …
With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype and time course …
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
Phillips JP, Warner LE, Lupski JR, Garg BP. Phillips JP, et al. Pediatr Neurol. 1999 Mar;20(3):226-32. doi: 10.1016/s0887-8994(98)00138-6. Pediatr Neurol. 1999. PMID: 10207934 Review.
The authors report the long-term prospective follow-up of two unrelated females with congenital hypomyelinating neuropathy (CHN) and review previously reported cases. The authors' first patient presented with neonatal hypotonia and extremely slow nerve conduction ve …
The authors report the long-term prospective follow-up of two unrelated females with congenital hypomyelinating neuropathy (CHN) and review …
29 results