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Quoted phrase not found in phrase index: "Developmental delay, impaired speech, and behavioral abnormalities"
Page 1
Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.
Yıldız Bölükbaşı E, Afzal M, Mumtaz S, Ahmad N, Malik S, Tolun A. Yıldız Bölükbaşı E, et al. Am J Med Genet A. 2017 Sep;173(9):2494-2499. doi: 10.1002/ajmg.a.38332. Epub 2017 Jun 21. Am J Med Genet A. 2017. PMID: 28636205
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. ...To date, only two other SPTBN2 mutations with …
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental …
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. Mannucci I, et al. Genome Med. 2021 May 21;13(1):90. doi: 10.1186/s13073-021-00900-3. Genome Med. 2021. PMID: 34020708 Free PMC article.
All 19 individuals harboring heterozygous missense variants within helicase core motifs (HCMs) have global developmental delay, intellectual disability, severe speech impairment, and gait abnormalities. These variants impair the ATPase an …
All 19 individuals harboring heterozygous missense variants within helicase core motifs (HCMs) have global developmental delay …
Opsoclonus-ataxia caused by childhood neuroblastoma: developmental and neurologic sequelae.
Mitchell WG, Davalos-Gonzalez Y, Brumm VL, Aller SK, Burger E, Turkel SB, Borchert MS, Hollar S, Padilla S. Mitchell WG, et al. Pediatrics. 2002 Jan;109(1):86-98. Pediatrics. 2002. PMID: 11773546
Cognitive development and adaptive behavior were delayed or abnormal in nearly all children. Expressive language was more impaired than receptive language. ...Behavioral problems early in the course included severe irritability and inconsolabili …
Cognitive development and adaptive behavior were delayed or abnormal in nearly all children. Expressive language was more i …
Efficacy of speech therapy in children with language disorders: specific language impairment compared with language impairment in comorbidity with cognitive delay.
Goorhuis-Brouwer SM, Knijff WA. Goorhuis-Brouwer SM, et al. Int J Pediatr Otorhinolaryngol. 2002 Apr 25;63(2):129-36. doi: 10.1016/s0165-5876(02)00004-6. Int J Pediatr Otorhinolaryngol. 2002. PMID: 11955604
They were categorised as children with specific language impairment (SLI). In 15 children the language problem was in comorbidity with cognitive delay, and these were categorised as children with non-SLI. ...Children with SLI seem to benefit more from spee …
They were categorised as children with specific language impairment (SLI). In 15 children the language problem was in comorbid …
The impact of cochlear implants on young deaf children: new methods to assess cognitive and behavioral development.
Quittner AL, Leibach P, Marciel K. Quittner AL, et al. Arch Otolaryngol Head Neck Surg. 2004 May;130(5):547-54. doi: 10.1001/archotol.130.5.547. Arch Otolaryngol Head Neck Surg. 2004. PMID: 15148175
Much evidence suggests that, early in life, auditory input and communication are essential for the normal development of language, cognition, and behavior. Thus, deaf children, who experience significant disruptions in auditory input, are likely to show delays not o …
Much evidence suggests that, early in life, auditory input and communication are essential for the normal development of language, cognition …