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Speech Delay (speech + delay)

Distribution by Scientific Domains

Medical Sciences	40%

Selected Abstracts

Risk Factors for Speech Delay of Unknown Origin in 3-Year-Old Children

CHILD DEVELOPMENT, Issue 2 2003
Thomas F. Campbell
One hundred 3-year-olds with speech delay of unknown origin and 539 same-age peers were compared with respect to 6 variables linked to speech disorders: male sex, family history of developmental communication disorder, low maternal education, low socioeconomic status (indexed by Medicaid health insurance), African American race, and prolonged otitis media. Abnormal hearing was also examined in a subset of 279 children who had at least 2 hearing evaluations between 6 and 18 months of age. Significant odds ratios were found only for low maternal education, male sex, and positive family history; a child with all 3 factors was 7.71 times as likely to have a speech delay as a child without any of these factors. [source]

Severe Epilepsy in X-Linked Creatine Transporter Defect (CRTR-D)

EPILEPSIA, Issue 6 2007
Maria Margherita Mancardi
Disorders of creatine synthesis or its transporter resulting in neurological impairment with mental retardation and epilepsy have only been recognized in recent years. To date, the epileptic disorder observed in creatine transporter deficiency (CRTR-D) has been described as a mild phenotype with infrequent seizures and favorable response to common antiepileptic drugs. We report on a 5 year-old boy with known speech delay who presented with severe and refractory epilepsy. After extensive investigations, metabolite analysis and brain 1H-MRS suggested CRTR-D, which was confirmed by the detection of a known pathogenic mutation in the SLC6A8 gene (c.1631C>T; p.Pro544Leu). [source]

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome,

HUMAN MUTATION, Issue 7 2008
Guntram Borck
Abstract Mutations in the AP1S2 gene, encoding the ,1B subunit of the clathrin-associated adaptor protein complex (AP)-1, have been recently identified in five X-linked mental retardation (XLMR) families, including the original family with Fried syndrome. Studying four patients in two unrelated families in which AP1S2 nonsense and splice-site mutations segregated, we found that affected individuals presented, in addition to previously described features, with elevated protein levels in cerebrospinal fluid (CSF). Moreover, computed tomography scans demonstrated that the basal ganglia calcifications associated with AP1S2 mutations appeared during childhood and might be progressive. Based on these observations, we propose that AP1S2 mutations are responsible for a clinically recognizable XLMR and autism syndrome associating hypotonia, delayed walking, speech delay, aggressive behavior, brain calcifications, and elevated CSF protein levels. Using the AP-2 complex, in which the , subunit is encoded by one single gene, as a model system, we demonstrated that , subunits are essential for the stability of human AP complexes. By contrast, no major alteration of the stability, subcellular localization, and function of the AP-1 complex was observed in fibroblasts derived from a patient carrying an AP1S2 mutation. Similarly, neither macro- nor microscopic defects were observed in the brain of an affected fetus. Altogether, these data suggest that the absence of an AP-1 defect in peripheral tissues is due to functional redundancy among AP-1 , subunits (,1A, ,1B, and ,1C) and that the phenotype observed in our patients results from a subtle and brain-specific defect of the AP-1-dependent intracellular protein traffic. Hum Mutat 29(7), 966,974, 2008. © 2008 Wiley-Liss, Inc. [source]

Duplication 8q22.1-q24.1 associated with bipolar disorder and speech delay

BIPOLAR DISORDERS, Issue 3 2006
JF Macayran
Objective:, To report a case of a child with bipolar disorder found to have an unbalanced translocation involving the long arm of chromosome 8, a region that has been previously implicated in genome-wide linkage scans. Case report:, A 7-year-old boy with a complex psychiatric symptom presentation including attention deficits, distractibility, impulsivity, pressured speech, sleep disturbance, aggressive behavior, and hypersexuality diagnosed with bipolar disorder. He also showed evidence of borderline intellectual and adaptive functioning and had mild dysmorphic features with a duplication of distal 8q that arose as an unbalanced chromosomal translocation due to a maternal 15p;8q insertion. Conclusion:, This finding of an unbalanced translocation provides further evidence to support previous linkage studies of a potential causative gene on 8q for bipolar disorder. [source]