Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “developmental delay”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 145 records · Page 8Linked to original sources
PubMed1995

A social skills training program for preschoolers with developmental delays. Generalization and social validity.

This investigation was designed to assess a social skills training program with 32 developmentally delayed preschoolers. Subjects were evaluated in an unstructured play session, matched for levels of appropriate and inappropriate social behaviors, and assigned to either a treatment or control condition. The treatment group (N = 16) was presented with a 6-week protocol involving positive reinforcement, modeling, rehearsal, feedback, and time out. Controls (N = 16) received no instruction beyond regular classroom activities during the 6 weeks. The two groups were reevaluated in a posttest session and again in a generalization setting where two peers with developmental delays (not included in either experimental condition) were included. Prosocial behaviors were successfully taught and maintained in generalization settings. Efforts to reduce inappropriate behaviors were less successful. A test of social validity via teachers' ratings of videotapes of pretest and posttest assessments was also conducted. Implications for generalization and social validity research are discussed.

Behavior Therapy↗
PubMed2003

Emplotting children's lives: developmental delay vs. disability.

While it is increasingly possible to envision "perfect" babies, it is not always the case that reproduction actually proceeds according to individual will; for example, there has been no recent reduction in rates of childhood disability. Nevertheless, in most studies of new reproductive technologies, the birth of those children whom few would actively choose-"defective" or disabled infants-is presented only in hypothetical terms. This paper argues for expanding the domain of reproduction to include research on the parenting of children with disabilities. Based on a qualitative research project carried out at a hospital-based newborn follow-up program that serves as an evaluation site determining eligibility for early intervention services for infants and young children with disabilities, this paper focuses on a particular part of women's experience of acquiring new knowledge about personhood and disability, that is, on the period of time when a woman has recently had confirmed that reproduction has, in her case, gone awry. Disability in many cultures, including the United States, diminishes personhood. I suggest that American mothers' narratives, by utilizing the concept of developmental delay, can assert personhood, or rather, the potential for its future attainment; in doing so, they justify ongoing nurturance of a disabled child in spite of negative attitudes about disability. A particular case of one mother's emplotment of her child's life within a story of developmental delay, in competition with the physician's story of disability, is analyzed. The paper concludes with reflections on how stories of developmental delay told by mothers just encountering a diagnosis of disability may differ from the stories told by those who have experienced mothering a disabled child over time, and on the implications of these differences for the cultural construction of personhood in the United States.

Adaptation, Psychological↗
PubMed1984

Temperament characteristics of mildly developmentally delayed infants.

Differences in temperament between 15 mildly developmentally delayed and 25 normal infants, ranging in age from 3 to 16 months, were examined using the Perception of Baby Temperament Instrument. Delayed infants differed significantly from normals with respect to the temperament dimensions of mood and approach. Mothers described their delayed infants as having lower positive mood scores and as being less approaching, more withdrawing, than did mothers of normal infants. The developmental implications of these findings as well as their impact on models of early intervention are discussed.

Developmental Disabilities↗
PubMed2006

Early identification of developmental delays pays major dividends.

Get on top of developmental delays early. Why? Because the potential for success in minimizing or eliminating such a deficit is greater if you identify the problem at an early stage. Further, developmental problems can lead to a cascade of costly utilization, so health care organizations have a strong stake in initiating effective DM initiatives around this issue. In fact, several Medicaid health plans around the country have done just that, and they are now ready to share their success stories.

Child Development↗
PubMed1993

Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies.

In males, duplication of a portion of Xq is associated with multiple congenital anomalies and developmental delay. Most females recognized as having dup(Xq) are phenotypically apparently normal relatives of phenotypically abnormal males; phenotypic normalcy has been attributed to selective inactivation of the duplicated X chromosome. Heretofore, apparently only 5 distinctly phenotypically abnormal females with dup(Xq) have been reported. We report on a 3-year-old girl with developmental delay, growth retardation, microcephaly, minor anomalies, and a seizure disorder who had a nonmosaic, de novo direct duplication of the terminal portion of one X chromosome. In each of 50 lymphocytes examined, the duplicated X chromosome was found to be late-replicating. This case shows that selective inactivation (as reflected by late replication) of the duplicated X chromosome does not inevitably confer phenotypic normalcy on females with dup(Xq), and suggests that other mechanisms must account for the phenotypic differences observed among females with dup(Xq), such as expression of recessive genes on the active X chromosome, incomplete inactivation of some portion of the duplicated chromosomal segment, an imprinting effect, or some combination of these.

Abnormalities, Multiple↗
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↗
PubMed1993

Chromosome testing in children with developmental delay in whom the aetiology is not evident clinically.

A review was carried out to establish the value of chromosome testing in children with significant developmental delay, where the aetiology was not evident clinically. During 1990, 315 children had been assessed at a child development clinic and found to be significantly delayed in one or more areas of development; in 256, the aetiology was not evident clinically. Chromosome testing of these children revealed an abnormality in 10 (3.9%). Thirty children had dysmorphic features; six (20%) of these had an abnormal karyotype. Four (2%) of the 226 who had no dysmorphic features had a chromosome abnormality. One hundred and fifty-five children had intellectual disability; eight (5%) of these had an abnormal karyotype. Two (2%) of 101 who had a specific delay in their development had a chromosome abnormality. The advantages of chromosome testing in children with developmental delay in whom the aetiology is not evident clinically are discussed.

Child↗
PubMed1996

[Psychopathology, self concept and developmental delay in healthy and chronically ill adolescents. Results of a 4 1/2 year longitudinal study].

Psychopathology, self-concept and developmental delays in healthy and chronically ill adolescents: Results of a 4-1/2-year follow-up study. This contribution presents results obtained in a 4-1/2-year longitudinal study on 91 adolescents with diabetes and 107 healthy adolescents. We addressed the question of whether chronically ill adolescents show more psychopathological behaviors than healthy adolescents, and if so, whether there are changes within a time span of 4-1/2-years. In addition, we investigated whether adolescents with diabetes differ from healthy adolescents in their feelings of self-esteem and in their developmental status. The self-concept of healthy and diabetic adolescents proved to be very similar, and stable over time as well. As regards developmental status, the developmental delays seen in the diabetic subjects at the beginning of the study had disappeared by the end of the study. Throughout the study the diabetic adolescents appeared to be more "normal", showing significantly fewer symptoms of psychopathology than the healthy control group. Furthermore, the consistently higher values in social desirability among the diabetic subjects show that the strong denial in these subjects was stable over the 4-1/2-year period.

Adolescent↗
PubMed2004

Barriers to family-centered services for infants and toddlers with developmental delays.

Social workers have become increasingly involved in providing family-centered services to families with infants and toddlers who have developmental delays. This study examined the perceptions of barriers to family-centered services of 22 family members and 20 services providers in one local services delivery system. A family-centered approach focuses on helping families cope with the challenges of having children with developmental delays, helping families work collaboratively with services providers, and supporting families as they make decisions about services. Families have experienced barriers related to aspects of the traditional Part C early intervention system and to providers outside the realm of traditional early intervention services and barriers related to individual personality characteristics. Participants suggested several strategies for empowering families to take a more active role on early intervention teams.

Child Welfare↗
PubMed1995

Effects of child age and level of developmental delay on family practice physicians' diagnostic impressions.

A 2 x 2 factorial design was used to examine the effects of child age (20 and 40 months) and level of developmental delay (mild and severe) on identification of developmental disorders by 155 family practice physicians. Results provide preliminary evidence that level of delay influences identification of developmental delay, with mild delay less likely to be detected. Implications in light of federal legislation as well as directions for future research were discussed.

Adult↗
PubMed2005

Lexical training through modeling and elicitation procedures with late talkers who have specific language impairment and developmental delays.

Late talkers with specific language impairment and developmental delay make up a large portion of our early childhood caseloads; therefore, an understanding of best clinical practices for these populations is essential. Early lexical learning was examined in 2 interactive treatment approaches with 29 late-talking preschoolers with language and developmental disabilities. Children were randomly assigned to either a mand-elicited imitation (MEI) condition in which elicitations and imitative prompts were used or to a modeling with auditory bombardment (Mod-AB) condition in which auditory bombardment and play modeling were incorporated with no response demands on participants. Lexical production of target vocabulary words already comprehended was measured during a 10-session training period and then during two 50-min play interactions with a parent/caretaker in the home after treatment was completed. Results indicated that the MEI procedure was relatively more effective in facilitating frequency and rate of target word learning in the treatment setting, but no significant differences were found between conditions in the number or percentage of target words generalized to the home setting. Mod-AB children produced more target words that were limited to the home setting than did MEI children, whose productivity was more balanced across settings. Treatment by aptitude regression analyses indicated that none of the preintervention language, cognitive, or total development aptitude scores were predictive of child performance in 1 treatment condition or the other, although Battelle Developmental Inventory communication scores and sizes of preintervention lexicons were predictive of child performance across conditions. Empirical and clinical issues pertaining to the efficacy of modeling- and elicitation-based procedures for late-talking preschoolers are discussed.

Child, Preschool↗
PubMed2005

Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome.

In 1998, Pierpont et al. reported on two unrelated boys with plantar lipomatosis, unusual facial phenotype, and developmental delay as a possible new MR/MCA syndrome. Here we report on a 2-year-old boy with similar manifestations: axial hypotonia in the first few months, prolonged feeding problems, moderate developmental delay, no speech development, deep palmar and plantar grooves, fat pads at the anteromedial aspect of the heels, and a distinct facial phenotype (high forehead, high anterior hairline, mild midfacial hypoplasia, remarkably narrow and upward slanted palpebral fissures, broad nasal ridge and tip, broad philtrum, bowed upper lip, "pouting" lower lip, full cheeks, and flat occiput). Brain MRI and MR spectroscopy studies showed relatively small frontal lobes, some widening of the lateral and third ventricles, and increased choline levels in the frontal white matter. Cytogenetic studies in lymphocytes and skin fibroblasts and whole genome micro-array CGH failed to show abnormalities. The present patient has a phenotype almost identical to that of the earlier reported children (Pierpont et al. [1998]: Am J Med Genet 75:18-21), which thereby validates this as a separate MR/MCA syndrome, appropriately designated Pierpont syndrome. The cause of the entity remains uncertain, the most likely etiologies being X-linked recessive or autosomal dominant genes.

Abnormalities, Multiple↗
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↗
PubMed1996

Endoscopic sinus surgery in the developmentally delayed child.

Functional endoscopic sinus surgery (FESS) has gained widespread support as the treatment of choice for chronic sinusitis in children. Seven developmentally delayed children were evaluated for chronic sinusitis with symptoms of cough, chronic rhinorrhea, and head banging because of pain. All seven were nonresponsive to repeated courses of oral and sometimes intravenous antibiotics; computed tomography scans on all revealed sinus disease. FESS was performed on all of them. Three children had marked respiratory difficulty at the end of the procedure, with two requiring reintubation. Two children were not able to take oral feedings postoperatively. Because of the complicated postoperative course, a second-look procedure was performed in only two children. We believe that FESS for developmentally delayed children should be tailored accordingly and that a second-look procedure should not be a routine.

Adolescent↗
PubMed1989

[Effects of partial inpatient treatment of preschool children with behavior disorders and developmental delay].

In a sample of 55 preschool children, four to seven years of age, treated by a therapeutic day-treatment programme up to 3;4 years, developmental delays and behavioral disorders, rated by parents and preschool teachers, were assessed every five months until discharge. Developmental delays and behavioral disorders were reduced clinically and statistically significant between onset of treatment and discharge. This result could also be verified preponderantly by analysing several measurement points in parts of the sample with different treatment durations. Comparing changes during a waiting period of one year at most with changes during a waiting period of one year at most with changes during day-treatment of equal duration, treatment effects could be verified at least as a tendency for changes in behavior problems but not for developmental abilities due to methodological problems.

Affective Symptoms↗
PubMed1998

Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.

A 4 year old female referred with developmental delay was found to have two de novo abnormal derivatives of chromosome 15, a supernumerary inverted duplicated marker chromosome (inv dup(15)) and an interstitial triplication of proximal 15q11-q13 or 14 in one of the two 15 homologues (trip(15)). Fluorescence in situ hybridisation (FISH) using probes within and flanking the Prader-Willi/Angelman syndrome critical region (PWASCR) confirmed the triplication in the abnormal 15 homologue. The inv dup(15) was dicentric, positive for IR39d which maps proximal to the PWASCR, but was negative for all the PWASCR FISH probes used. Results using polymorphic microsatellite repeats confirmed that the additional material in the trip(15) was maternal in origin and included several PWASCR loci. The presence of two de novo abnormalities involving the proximal region of 15q suggests a linked mechanism of origin.

Child, Preschool↗
PubMed2007

Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: a novel syndrome.

We describe in two brothers an apparently novel syndrome comprising obesity, congenital hypothyroidism, neonatal colitis, cardiac biventricular hypertrophy, craniosynostosis, and developmental delay. The first brother presented with neonatal colitis and congenital hypothyroidism and died at age 5 weeks of fulminant colitis. The second brother presented neonatally with the same condition, but survived and subsequently developed severe obesity, sagittal and coronal synostosis, and developmental delay. Both pregnancies had been complicated by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome). Exhaustive genetic and metabolic investigations have failed to provide a unifying pathogenesis. This unique combination of manifestations appears to represent a new syndrome with probable autosomal recessive or X-linked recessive inheritance.

Cardiomegaly↗
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↗