Speech delay

About: Speech delay is a research topic. Over the lifetime, 563 publications have been published within this topic receiving 12268 citations.

Prevalence of Speech Delay in 6-Year-Old Children and Comorbidity With Language Impairment

Abstract: We estimate the prevalence of speech delay (L. D. Shriberg, D. Austin, B. A. Lewis, J. L. McSweeny, & D. L. Wilson, 1997b) in the United States on the basis of findings from a demographically repre...

A clinical study of 57 children with fetal anticonvulsant syndromes

Abstract: BACKGROUND Anticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with prenatal anticonvulsant exposure further, we undertook a clinical study of 57 children with fetal anticonvulsant syndromes. METHODS Fifty two children were ascertained through the Fetal Anticonvulsant Syndrome Association and five were referred to the Aberdeen Medical Genetics Service. Pregnancy and medical history were obtained through a standardised questionnaire and interview and the children were examined. RESULTS Thirty four (60%) were exposed in utero to valproate alone, four (7%) to carbamazepine alone, four (7%) to phenytoin alone, and 15 (26%) to more than one anticonvulsant. Forty six (81%) reported behavioural problems, 22 (39%) with hyperactivity or poor concentration of whom four (7%) had a diagnosis of attention deficit and hyperactivity disorder. Thirty four (60%) reported two or more autistic features, of whom four had a diagnosis of autism and two of Asperger9s syndrome. Forty four (77%) had learning difficulties, 46 (81%) had speech delay, 34 (60%) had gross motor delay, and 24 (42%) had fine motor delay. Nineteen (33%) had glue ear and 40 (70%) had joint laxity involving all sizes of joints. Of 46 who had formal ophthalmic evaluation, 16 (34%) had myopia. CONCLUSIONS Speech delay, joint laxity, glue ear, and myopia are common in the fetal anticonvulsant syndromes and autistic features and hyperactivity form part of the behavioural phenotype.

Genetic influences and infantile autism

Abstract: IN his original description of infantile autism, Kanner suggested an “inborn defect”, because symptoms were often present from early infancy. Despite the rarity of a family history of autism and lack of a known increase in parental consanguinity, there are two reasons for suspecting hereditary influences: the 2% rate of autism in siblings is 50 times that of the general population1, and a family history of speech delay is found in about a quarter of families2. Reports of single pairs of twins with autism have not added much to our knowledge of genetic effects because of a bias toward reporting monozygotic (MZ) concordant pairs and because few reports contain both adequate clinical descriptions and evidence of zygosity1. We therefore undertook a study of a systematically collected sample of 21 pairs of same-sexed twins, one or both of whom had autism as diagnosed by the criteria of Kanner3 and Rutter4. The results reported here indicate the importance of hereditary influences in the aetiology of autism.

Interstitial deletion of (17)(p11.2p11.2) in nine patients

Abstract: We describe a new and distinct syndrome involving an interstitial deletion of the short arm of choromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. In eight patients, a deletion of a portion of band 17p11.2 was associated with a striking similar phenotype including brachycephaly, midface hypoplasia, prognathism, hoarse voice, and speech delay with or without hearing loss, psychomotor and growth retardation, and behavior problems. The one patient with a complete deletion of band 17p11.2 was more severely affected with facial malformations, cleft palate, and major anomalies of cardiac, skeletal, and genitourinary systems; the patient died at age 6 months. Careful cytogenetic analysis including high-resolution techniques will be important for the further identification of patients with this previously unrecognized deletion syndrome.

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Abstract: We undertook clinical evaluation (32 cases) and molecular evaluation (31 cases) of unrelated patients affected with Smith-Magenis syndrome (SMS) associated with an interstitial deletion of band p11.2 of chromosome 17. Patients were evaluated both clinically and electrophysiologically for peripheral neuropathy, since markers showing close linkage to one form of Charcot-Marie-Tooth disease (CMT1A) map to this chromosomal region. The common clinical findings were broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, and hoarse, deep voice. Fifty-five percent of the patients showed clinical signs (e.g., decreased or absent deep tendon reflexes, pes planus or pes cavus, decreased sensitivity to pain, and decreased leg muscle mass) suggestive of peripheral neuropathy. However, unlike patients with CMT1A, these patients demonstrated normal nerve conduction velocities. Self-destructive behaviors, primarily onychotillomania and polyembolokoilamania, were observed in 67% of the patients, and significant symptoms of sleep disturbance were observed in 62%. The absence of REM sleep was demonstrated by polysomnography in two patients. Southern analysis indicated that most patients were deleted for five 17p11.2 markers--FG1 (D17S446), 1516 (D17S258), pYNM67-R5 (D17S29), pA10-41 (D17S71), and pS6.1-HB2 (D17S445)--thus defining a region which appears to be critical to SMS. The deletion was determined to be of paternal origin in nine patients and of maternal origin in six patients. The apparent random parental origin of deletion documented in 15 patients suggests that genomic imprinting does not play a role in the expression of the SMS clinical phenotype. Our findings suggest that SMS is likely a contiguous-gene deletion syndrome which comprises characteristic clinical features, developmental delay, clinical signs of peripheral neuropathy, abnormal sleep function, and specific behavioral anomalies.