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Results for “Developmental delay”

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At least 19 recordsLinked to original sources
PubMed1992

Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.

We present male and female sibs of consanguineous parents with features including pili torti with unusual hair shaft electron microscopic (EM) findings, growth delay, developmental delay, and mild to moderate neurological abnormalities. The features of the cases presented here have not been noted in the previously reported clinical syndromes in which pili torti may be found.

Argininosuccinic Acid↗
PubMed1992

Social skills and their correlates: preschoolers with developmental delays.

Fifteen preschool-age children with mild mental retardation (developmental delays) from mainstreamed schools were observed during two structured play sessions with matched peers without mental retardation. Children with developmental delays spent more time alone and when they played, showed less social play. The two groups did not differ on communication behaviors that maintained play or in negative affect; however, the children with developmental delays evidenced more disruptive entry, more regressive behaviors, and less positive affect. Families were interviewed concerning their attitudes about, and teaching of, social skills. For the children without mental retardation, level of social play was positively related to the family's teaching and the child's communication abilities. For the children with delays, social play related to developmental age and communication ability but not to family teaching.

Child, Preschool↗
PubMed1992

[Study on the relationship between toddler temperament and development (second report)--the relationship between toddler temperament and developmental delay].

The purpose of this study is to clarify the relationship between toddler temperament and developmental delay, and to examine whether the result could be adapted to the health practice of mother and child. As the conceptual framework, we used A. J. Sameroff's transactional model. Questionnaires concerning toddler temperament, rearing environment and toddler development were sent to mothers whose children were scheduled to receive 1 year and 6 months child health examinations, and collected 306 responses. We assessed the developmental status of 41 children among the 306 by means of the Japanese edition of the Denver Developmental Screening Test. All 306 children were classified into either the developmental delayed group (30) or the normal group (275). The data analyses were conducted both quantitatively and qualitatively with the following results. Compared with normal children, developmentally delayed children showed these characteristics: (1) The temperamental category scores of adaptability and persistence were higher, indicating low adaptability and persistence. The prevalence of difficult child, slow to warm up (STWU) child and intermediate high child was relatively higher, with STWU child the highest. (2) The score for the rearing environment was lower. (3) There were cases where disagreement between a child's temperament and the mother's rearing behavior had an influence on the child's development. As a conclusion, these results indicate that a child's temperament must be considered developmental and child-rearing counseling in child health examinations.

Child, Preschool↗
PubMed1992

Treatment of elective mute behavior in two developmentally delayed children using modeling and contingency management.

Most classification schemes differentiate elective mutism from language problems seen in the developmentally delayed population. Two preschool developmentally delayed children were treated for speech reluctance using modeling and contingency management. Employing a multiple baseline across therapists, it was found that these treatment components were effective in increasing frequency of labeling behavior in both children. Results were maintained at follow-up. Generalization to new words and to spontaneous speech were also noted, and suggest that characteristics of elective mutism in this population may be similar to what is found in the general population.

Child Language↗
PubMed1992

Child developmental delay and socio-economic disadvantage in Australia: a longitudinal study.

Socio-economic inequalities in adult and child health in Australia have been an issue of national concern. While a large body of data has discussed adult health, there have been relatively few Australian reports of socio-economic inequalities in child health. This occurs in a context where there have been increases in the proportion of Australian children living in poverty and where there has been an increased interest in child developmental delay as an indicator of child health status. This paper reports the result of a longitudinal study of pregnancy outcomes and one indicator of child health, namely child developmental delay. Three indicators of socio-economic status (chronic socio-economic disadvantage, mother's education, family income) were used to predict child developmental delays observed some 5 1/2 years after the study commenced. Mothers who had the lowest socio-economic status (using any of the indicators) had substantially higher rates of children manifesting developmental delays.

Australia↗
PubMed2025

Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.

BACKGROUND: Mutations in cysteinyl-tRNA synthetase (CARS1) have been implicated in a multisystem disease including microcephaly, developmental delay, and brittle hair and nail phenotypes. METHODS: Here, we present a patient with hepatopathy, hypothyroidism, short stature, developmental delay, microcephaly, muscular hypotonia, brittle hair, and ataxia. The patient underwent exome sequencing to identify potentially pathogenic genetic variants. In addition, identified variants were assessed using yeast complementation assays to determine functional consequences. RESULTS: Exome sequencing determined that the patient is compound heterozygous for p.Arg341His and p.Arg370Trp CARS1. Yeast complementation assays showed that the p.Arg341His variant has a hypomorphic effect and that the p.Arg370Trp variant causes a complete loss-of-function effect. CONCLUSION: This study is the second report of pathogenic CARS1 variants and expands the allelic and phenotypic heterogeneity of CARS1-associated disease.

Humans↗
PubMed1977

Brief screening for developmentally delayed preschoolers.

23 preschool boys and girls with developmental delays were administered the Peabody-A, Riley Design, McCarthy Designs, and the Riley human figure. Correlations among scores ranged from .58 to .80 suggesting preliminary screening might be undertaken by a qualified teacher though this sample was very small and special.

Child↗
PubMed2023

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

The collection of known genetic etiologies of neurodevelopmental disorders continues to increase, including several syndromes associated with defects in zinc finger protein transcription factors (ZNFs) that vary in clinical severity from mild learning disabilities and developmental delay to refractory seizures and severe autism spectrum disorder. Here we describe a new neurodevelopmental disorder associated with variants in ZBTB47 (also known as ZNF651), which encodes zinc finger and BTB domain-containing protein 47. Exome sequencing (ES) was performed for five unrelated patients with neurodevelopmental disorders. All five patients are heterozygous for a de novo missense variant in ZBTB47, with p.(Glu680Gly) (c.2039A>G) detected in one patient and p.(Glu477Lys) (c.1429G>A) identified in the other four patients. Both variants impact conserved amino acid residues. Bioinformatic analysis of each variant is consistent with pathogenicity. We present five unrelated patients with de novo missense variants in ZBTB47 and a phenotype characterized by developmental delay with intellectual disability, seizures, hypotonia, gait abnormalities, and variable movement abnormalities. We propose that these variants in ZBTB47 are the basis of a new neurodevelopmental disorder.

Child↗
PubMed1992

Correlates of maternal directiveness with children who are developmentally delayed.

Interactions between 25 mothers and their children with developmental delays were correlated to determine the relationships between maternal directiveness and a) maternal behavior regarded as developmentally facilitative, b) maternal intrusiveness, and c) child developmental competence and behavioral engagement. The findings, many of which challenge common conceptions about the nature and role of maternal directiveness, are discussed in relation to these conceptions and to the potential role of directiveness in the development of children with handicaps.

Adult↗
PubMed1992

Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome.

A 4-year-old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth. She was the product of first-cousin consanguineous marriage. She had striking facies with frontal prominence, deep-set eyes, depressed nasal bridge, beaked nose, long philtrum with thin upper lip, micrognathia, large floppy ears, bifid uvula, and growth retardation with SD score less than -2 for height, weight and head circumference. We believe these features which include congenital hypoparathyroidism, severe growth failure and developmental delay in the absence of chromosomal abnormality represent a newly described genetically determined syndrome.

Abnormalities, Multiple↗
PubMed1992

Language intervention with children who have developmental delays: effects of an interactive approach.

The interactive model of language intervention instructs parents to use techniques that promote reciprocal social interactions and facilitate the development of communication and language abilities. In this evaluation study, 32 mothers and their preschool-age children with developmental delays were randomly assigned to treatment and control (delayed treatment) groups. Consistent with the interactive model, mothers in the treatment group became more responsive, less directive, and provided clearer linguistic models. Furthermore, these changes were maintained for at least 4 months after intervention, and involvement in the parent-centered intervention program did not increase maternal stress. More important, these changes were accompanied by concomitant increases in children's use of vocal turns. Contrary to predictions, developmental improvements in children's communicative and linguistic abilities were comparable in both groups. Findings suggest that an interactive model may afford a useful adjunct to other intervention approaches by instructing parents on how to promote children's use of existing abilities, but an interactive model may have no effect on language acquisition of at least some children with developmental delays.

Adult↗
PubMed1992

Do children with developmental delays use more frequent and diverse language in verbal routines?

The current study is the first to test the hypotheses that children with developmental delays use more frequent language and more diverse vocabulary in routines than in nonroutines. The 19 child participants were in Brown's (1973) first stage of language learning. Using a novel method of measuring routines, 18 of the parents identified at least one routine in a videotaped play session with their children. Results support both hypotheses and provide descriptive information about the content of the routines displayed by the parents and children in the free-play context. The importance of replicating the findings in the context of an experimental design before concluding that "routineness" caused the children to talk more often and with more diverse vocabulary was emphasized.

Child↗
PubMed1977

Establishing a normal peer as a behavioral model for developmentally delayed toddlers.

The present investigation demonstrated a systematic teaching procedure for establishing a normal toddler as a peer-model for three children showing delayed development, each one under 27 mo. of age. For each delayed subject, training consisted of adult-directed prompting and social reinforcement contingent upon the delayed children's imitations of material use and motor responses emitted by a normal peer. Within-subjects multiple-baseline designs across responses were used to demonstrate intrasubject control over imitative responding. Indices of stimulus and response generalization were assessed through having the peer-model present the trained responses along with untrained responses in a situation free of adult prompting and social reinforcement for imitative responding. Results indicated that the training in peer-imitation was successful for establishing the peer-model's behavior in a stimulus control relationship with the imitative responding of the delayed children. Moreover, the findings generally demonstrated transfer of training across stimulus situations and responses. Implications for educational programming with developmentally delayed children are discussed.

Behavior Therapy↗
PubMed2026

RETRACTION: Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.

C. Del Greco, M. E. Kuo, D. E. C. Smith, M. I. Mendes, G. S. Salamons, M. Nemcovic, R. Kodrikova, S. Sestak, M. Stancheva, and A. Antonellis, "Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype," Molecular Genetics & Genomic Medicine 13, no. 2 (2025): e70078, https://doi.org/10.1002/mgg3.70078. The above article, published online on 18 February 2025 in Wiley Online Library (https://onlinelibrary.wiley.com/), has been retracted by agreement between the authors; the journal Editor-in-Chief, Paraminder Dhillon; and Wiley Periodicals, LLC. The retraction has been agreed upon due to the lack of appropriate authorization for the publication of the CARS1 variants related to the specific patient described in this clinical report. In addition, written consent for publication was not obtained from the child's legal guardian.

Journal Article↗
PubMed2025

A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis.

PURPOSE: Hereditary spastic paraparesis (HSP) is a genetically diverse group of Mendelian disorders characterized by length-dependent axonal degeneration. Microtubule dysfunction is a known mechanism in HSP that impairs axonal dynamics. TBCB encodes tubulin-folding cofactor B (TBCB), which, along with TBCE, regulates αβ-heterodimer dynamics and neuronal axonal growth. Here, we describe a new form of complicated HSP caused by a founder variant in TBCB. METHODS: Exome sequencing revealed a homozygous c.589T>A p.(Tyr197Asn) variant in TBCB in a cohort of 10 individuals assembled through genematching tools. Protein function was assessed using Saccharomyces cerevisiae ortholog ALF1, and a CRISPR-Cas9-generated homologous mutant in Drosophila melanogaster. TBCB expression and localization were examined in fibroblasts using western blot and immunofluorescence. RESULTS: Participants displayed late-childhood-onset spastic paraparesis, global developmental delay, and autism spectrum. TBCB protein levels were reduced in affected fibroblasts. The ALF1 mutant in yeast increased benomyl sensitivity, resembling a loss-of-function phenotype. In Drosophila melanogaster, the homologous mutant led to reduced survival and impaired climbing ability. CONCLUSION: We describe a novel neurodevelopmental disorder with spastic paraparesis and a high carrier rate in the Ashkenazi Jewish population. Our results indicate that TBCB has a vital role in the development of central nervous system and potentially in axonal function in humans.

Humans↗
PubMed1978

Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays.

Two preschool-age siblings with similar histories of encephalopathy were examined for developmental retardation and found to have elevated levels of urinary and blood glycine. Their inability to convert glycine into serine in the absence of elevated blood and urinary ketone levels was suggestive of a defect in the glycine-cleavage enzyme system (or serine hydroxymethyl transferase). These patients differ significantly from the majority of reported cases of nonketotic hyperglycinemia in that they did not manifest life-threatening neonatal illness, severe mental retardation, or neurological deficits. However, during an oral glycine load, alterations in the electroencephalographic pattern occurred that suggested a relationship between elevated blood glycine levels and pathological involvement of the central nervous system. The ratio of CSF-blood glycine was found to be in the range expected for nonketotic hyperglycinemia.

Amino Acid Metabolism, Inborn Errors↗