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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with hearing loss and spasticity"
Page 1
Cerebral palsy: comprehensive review and update.
Jan MM. Jan MM. Ann Saudi Med. 2006 Mar-Apr;26(2):123-32. doi: 10.5144/0256-4947.2006.123. Ann Saudi Med. 2006. PMID: 16761450 Free PMC article. Review.
Cerebral palsy (CP) is a common pediatric disorder occurring in about 2 to 2.5 per 1000 live births. It is a chronic motor disorder resulting from a non-progressive (static) insult to the developing brain. ...This requires the provision of a number of family-centere …
Cerebral palsy (CP) is a common pediatric disorder occurring in about 2 to 2.5 per 1000 live births. It is a chronic motor disorde …
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Alharby E, Faqeih EA, Saleh M, Alameer S, Almuntashri M, Pastore A, Samman MA, Alnawfal AM, Hashem M, Zaytuni D, Alharbi G, Almannai M, Alasmari A, Mahmoud AA, Alwadei AH, Jad L, AlOtaibi A, Al-Hakami F, Eyaid W, Alkuraya FS, Alfadhel M, Peake RWA, Almontashiri NAM. Alharby E, et al. Genet Med. 2020 Dec;22(12):2071-2080. doi: 10.1038/s41436-020-0919-x. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741967 Free article.
RESULTS: The major phenotypes included congenital microcephaly (100%), facial dysmorphism (100%), global developmental delay (100%), brain abnormalities (100%), spasticity (86%), and infantile-onset seizures (93%). Additional unreported phenotypes included umbilical hernia …
RESULTS: The major phenotypes included congenital microcephaly (100%), facial dysmorphism (100%), global developmental delay (100%), brain a …
Cerebral palsy in Moldova: subtypes, severity and associated impairments.
Gincota Bufteac E, Andersen GL, Torstein V, Jahnsen R. Gincota Bufteac E, et al. BMC Pediatr. 2018 Oct 19;18(1):332. doi: 10.1186/s12887-018-1305-6. BMC Pediatr. 2018. PMID: 30340478 Free PMC article.
RESULTS: Among 207 children with CP (estimated prevalence 3.4 per 1000 live births), 185 (mean age 7.3 years; 36% girls) had detailed information. Thirty seven (20%) children had spastic unilateral, 113 (61%) spastic bilateral, 22 (12%) dyskinetic and 9 (5%) childre …
RESULTS: Among 207 children with CP (estimated prevalence 3.4 per 1000 live births), 185 (mean age 7.3 years; 36% girls) had detailed inform …
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. ...Abnormal vision and/or hearing, progressive spasticity, …
Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders …
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.
The majority of affected individuals never learned to walk (68%). Seventy-nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). ...The urinary marker 3-methylglutaconic aciduria was present in v …
The majority of affected individuals never learned to walk (68%). Seventy-nine percent suffered hearing loss, 58% never learne …
Cerebrovascular complications and neurodevelopmental sequelae of neonatal ECMO.
Graziani LJ, Gringlas M, Baumgart S. Graziani LJ, et al. Clin Perinatol. 1997 Sep;24(3):655-75. Clin Perinatol. 1997. PMID: 9394865 Review.
A total of 355 infants have been treated with ECMO at our hospital between 1985 and 1996, 271 of whom have been enrolled in an ongoing prospective study; of the 271 infants enrolled, 223 (82%) survived, and most function within the normal range of development. Nevertheless, handi …
A total of 355 infants have been treated with ECMO at our hospital between 1985 and 1996, 271 of whom have been enrolled in an ongoing prosp …
Severity of Cerebral Palsy-The Impact of Associated Impairments.
Horber V, Fares A, Platt MJ, Arnaud C, Krägeloh-Mann I, Sellier E. Horber V, et al. Neuropediatrics. 2020 Apr;51(2):120-128. doi: 10.1055/s-0040-1701669. Epub 2020 Mar 2. Neuropediatrics. 2020. PMID: 32120428
The impairment index was low (walking unaided and normal or near-normal intellect) in 30% of cases; 54% (n = 1,637) in unilateral spastic, 24% (n = 79) in ataxic, 18% (n = 913) in bilateral spastic, and 7% (n = 50) in dyskinetic CP. Around 40% had a high impairment …
The impairment index was low (walking unaided and normal or near-normal intellect) in 30% of cases; 54% (n = 1,637) in unilateral spastic …
The neurology of carbonic anhydrase type II deficiency syndrome.
Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK. Bosley TM, et al. Brain. 2011 Dec;134(Pt 12):3502-15. doi: 10.1093/brain/awr302. Epub 2011 Nov 26. Brain. 2011. PMID: 22120147
General neurological examinations were unremarkable except for one patient with brisk deep tendon reflexes and two with severe mental retardation and spastic quadriparesis. Globes and retinae were normal, but optic nerve involvement was present in 23/46 eyes and was variab …
General neurological examinations were unremarkable except for one patient with brisk deep tendon reflexes and two with severe mental retard …
Neurodevelopmental outcome in meningococcal disease: a case-control study.
Fellick JM, Sills JA, Marzouk O, Hart CA, Cooke RW, Thomson AP. Fellick JM, et al. Arch Dis Child. 2001 Jul;85(1):6-11. doi: 10.1136/adc.85.1.6. Arch Dis Child. 2001. PMID: 11420186 Free PMC article.
Standard measures of neurological function, coordination, cognition, behaviour, and hearing were used to assess neurodevelopmental status. RESULTS: One case has spastic quadriplegia. Gross neurological examination was normal in all other cases and all control …
Standard measures of neurological function, coordination, cognition, behaviour, and hearing were used to assess neurodevelopmental …
Adverse outcomes of bacterial meningitis in school-age survivors.
Grimwood K, Anderson VA, Bond L, Catroppa C, Hore RL, Keir EH, Nolan T, Roberton DM. Grimwood K, et al. Pediatrics. 1995 May;95(5):646-56. Pediatrics. 1995. PMID: 7536915

Eleven children who had experienced meningitis (8.5%) had major deficits (IQ < 70, seizures, hydrocephalus, spasticity, blindness, or severe to profound hearing loss); a further 24 (18.5%) cases and 14 (10.8%) control children had minor deficits (IQ 70 to

…

Eleven children who had experienced meningitis (8.5%) had major deficits (IQ < 70, seizures, hydrocephalus, spasticity, blindness,

…
21 results