SEARCH · PubMed Health

Results for “Developmental delay”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

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

At least 379 records · Page 21Linked to original sources

PubMed2005

Preschool children with and without developmental delay: behaviour problems, parents' optimism and well-being.

BACKGROUND: Children with intellectual disability are at heightened risk for behaviour problems, and these are known to increase parenting stress. This study explored the relation of behaviour problems to less child-related domains of parent well-being (depression and marital adjustment), as well as the moderating effect of a personality trait, dispositional optimism. METHOD: Participating children (N = 214) were classified as developmentally delayed, borderline, or nondelayed. Mothers' and fathers' well-being and child behaviour problems were assessed at child ages 3 and 4 years. RESULTS: Parents of delayed and nondelayed preschoolers generally did not differ on depression or marital adjustment, but child behaviour problems were strongly related to scores on both measures. Optimism moderated this relationship, primarily for mothers. When child behaviour problems were high, mothers who were less optimistic reported lower scores on measures of well-being than did mothers who were more optimistic. CONCLUSIONS: Interventions for parents that aim to enhance both parenting skills and psychological well-being should be available in preschool. It may be beneficial for such programmes to focus not only on behaviour management strategies aimed at child behaviour change, but also on parents' belief systems, with the aim of increasing dispositional optimism.

Affect↗

PubMed1997

Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.

We describe 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature. Although the condition in these children falls under the general group of disorders known as cutis marmorata telangiectatica congenita (CMTC), the constellation of abnormalities appears to constitute a distinct and easily recognizable phenotype within this general group. In contrast to most children reported with CMTC, children in this subgroup have a high risk for neurologic abnormalities, including developmental delay, mental retardation, megalencephaly, and hydrocephalus. Early recognition of this condition is important for appropriate surveillance for known complications and parental counseling.

Abnormalities, Multiple↗

PubMed1988

Atypical Prader-Willi syndrome with severe developmental delay and emaciation.

A young boy showed features of Prader-Willi syndrome including hypotonia, cryptorchidism, a mildly dysmorphic facial appearance, a high-arched palate and an open triangular-shaped mouth, but had additional symptoms such as simian creases and multiple joint ankylosis in early infancy. Deletion of the long arm of chromosome 15(q11.2 to q13) was recognized. A muscle biopsy specimen showed variation in fiber size with hypertrophic type 1 fibers, type 2 fiber smallness, type 2B fiber paucity and an increased number of type 2C fibers. At the age of 4 1/2 years, he still showed severe developmental delay with severe muscle hypotonia, weakness and emaciation.

Child, Preschool↗

PubMed2001

Two supernumerary marker chromosomes, originating from chromosomes 6 and 11, in a child with developmental delay and craniofacial dysmorphism.

The interpretation of the significance of marker chromosomes, which can be encountered at prenatal diagnosis, is extremely problematic. Various factors contribute to the difficulty of clarifying the phenotypic risks of supernumerary marker chromosomes, including differences in the size, structure, and origin of marker chromosomes, as well as the occurrence of multiple marker chromosomes of different origin in the same proband. Research on marker chromosomes is currently in a data-accumulation phase. We report the presence of two marker chromosomes, originating from chromosomes 6 and 11, in a child with developmental delay and craniofacial dysmorphism and discuss the related literature.

Child, Preschool↗

PubMed2005

Photoperiod-sensitive developmental delay in facet mutants of the drosophilid fly, Chymomyza costata and the genetic interaction with timeless.

Previously, we demonstrated that the biological clock gene, timeless (tim), is potentially involved in photoperiodic diapause induction in the larvae of the drosophilid fly Chymomyza costata. Suppression of tim transcription was inevitably associated with the loss of diapause induction even under diapause-promoting short-day conditions. In the present paper, I report a novel gene, facet (fa), which may genetically interact with tim in photoperiodically controlled larval development in this species. I demonstrated the effect of photoperiod on the development of fa morphological mutants. Developmental delay was remarkable in fa larvae under a diapause-preventing photoperiod, 16 h light: 8 h dark/day, in which the wild-type individuals showed normal and synchronous development. The delay was recovered by extension of the light phase of daily light/dark cycles or the introgression of a deficient tim allele.

Animals↗

PubMed1996

Conduct disorder, enuresis and specific developmental delays in two types of encopresis: a case-note study of 63 boys.

Encopresis, defined as the passage of stool in an unacceptable place, may occur either as a failure to establish toilet training (primary encopresis), or as a subsequent breakdown in that training (secondary encopresis). A case-note study of sixty-three encopretic boys was undertaken to test the hypothesis that primary and secondary encopresis differed in their associated psychopathology. Boys with primary encopresis were more likely to have developmental delays (p<0.001) and enuresis (p<0.05) than boys with secondary encopresis. Those with secondary encopresis had excesses of psychosocial adversity (p <0.001) and conduct disorder (p <0.05) compared to those with primary encopresis. These results suggest that future research should clearly distinguish these two subtypes when investigating the associated psychopathology of encopresis in boys; research is needed to establish if these associations hold for girls also.

Child↗

PubMed1987

Musical stimulation in the developmentally delayed child: a pilot study.

Music is a convenient way of bypassing barriers of communication and eliciting responses that may be helpful in the diagnoses and treatment of illness. The use of background music in elevators, in doctors' offices, and in stores are good examples of how music can be used to affect the subconscious mind. In this pilot study drums were used to better define the effects of particular elements of music and sound. When repetitive rhythms are presented as background music to a group of severely developmentally delayed children, three out of four subjects show a definite change in level of development in the unstructured task of free drawing. To discover more about the effects of the various elements of music and to better identify patterns in the environment that are conducive to optimal functioning, further studies are indicated.

Acoustic Stimulation↗

PubMed1999

A complex background in children and adolescents with psychiatric disorders: developmental delay, dyslexia, heredity, slow cognitive processing and adverse social factors in a multifactorial entirety.

A consecutive cohort of 112 children, 42 girls and 70 boys, aged 5-17 years, receiving child psychiatric inpatient care, was investigated regarding the probability of a complex background of concomitant biological and social factors. Most of the subjects showed maladjustment and depressive states, school problems, problems with peers, psychosomatic complaints and anxiety. A very high rate of factors indicating neurodevelopmental dysfunctions was found particularly in boys, who exhibited developmental delay, dyslexia, heredity for dyslexia, and a slow complex reaction time (CRT) - suggesting slow cognitive processing - considered an impairment in itself. Further, many children obtained errors on the CRT task, indicating attention deficit and deterioration during the test, pointing toward exhaustion. The social background displayed frequent problems such as broken homes, care outside the biological home, and disordered and/or abusing parents. The biological and social factors created a complex web, predisposing the child to primary, secondary and/or comorbidity problems, and leading to an interactive process reducing the child's psychosocial capacity and competence. A pattern was developed of an impaired child, living in an inadequate/insufficient family milieu in a modern society, with increasing demands on children.

Adolescent↗

PubMed1997

Vitamin D, calcium, and bone status in children with developmental delay in relation to anticonvulsant use and ambulatory status.

Reports of abnormalities in vitamin D, calcium, and bone status associated with anticonvulsant use are inconsistent and difficult to interpret because of widely varying study designs, particularly for ambulatory status. We examined the relative effects of anticonvulsant use and ambulatory status on vitamin D, calcium, and bone status in a large group (n = 338) of children who had either normal motor function (ambulatory) or were nonambulatory and either receiving anticonvulsants or not; all had developmental delays. Data included diet records, serum analyses (calcium and calcidiol), and hand-wrist radiographs evaluated for bone maturation and quality. Data were analyzed by using a general linear models (GLM) procedure. Dietary and biochemical data were compared with those of a group of 34 normal children. There were no differences in calcium or vitamin D intakes among the four study groups; however, a high percentage of intakes was below the recommended dietary allowances for calcium (56%) and vitamin D (70%). Vitamin D intakes were positively associated with serum calcium (P < 0.005) and calcidiol (P < 0.01) concentrations. Analysis of covariance indicated that ambulatory status but neither anticonvulsant use nor their interaction contributed significantly to the prediction of serum calcium (P < 0.009) and calcidiol (P < 0.0001), the Z scores for number of ossified centers (P < 0.008), bone age (P < 0.0001), and bone area (P < 0.003). A strong interaction between anticonvulsant use and ambulatory status was seen for percentage cortical area (P < 0.0008), which was entirely due to anticonvulsant use in nonambulatory children (effect size = 0.98). Results suggest that ambulatory status is more important than was recognized previously in relation to abnormalities in vitamin D, calcium, and bone statuses; that all nonambulatory children may be at risk for low serum calcidiol and osteopenia; and that routine monitoring of risk and consideration of prophylactic vitamin D supplementation are warranted.

Anticonvulsants↗

PubMed1998

Livedo reticularis, developmental delay and stroke-like episode in a 7-year-old male.

Livedo reticularis is a vascular abnormality of the skin resulting in an erythematous reticular rash. The combination of livedo reticularis and stroke-like episodes in adults is known as Sneddon syndrome [Sneddon, IB (1965). Br J Dermatol 77:180-188]. A similar combination of stroke-like episodes and livedo reticularis has been reported to occur in children [Baxter P et al. (1993). Dev Med Child Neuro 35:917-926]. We present here a 7-year-old male with congenital livedo reticularis, obesity, developmental delay, stroke-like episode, hypertension and cystic kidneys. We summarize our patient's findings and family history, and compare his disorder to other possibly related conditions.

Adult↗

PubMed2006

Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation.

Guanidinoacetate N-methyltransferase (GAMT) deficiency is a defect in the biosynthesis of creatine (Cr). So far, reports have not focused on the description of developmental abilities in this disorder. Here, we present the result of formal testing of developmental abilities in a GAMT-deficient patient. Our patient, a 3-year-old boy with GAMT deficiency, presented clinically with a severe language production delay and nearly normal nonverbal development. Treatment with oral Cr supplementation led to partial restoration of the cerebral Cr concentration and a clinically remarkable acceleration of language production development. In contrast to clinical observation, formal testing showed a rather harmonic developmental delay before therapy and a general improvement, but no specific acceleration of language development after therapy. From our case, we conclude that in GAMT deficiency language delay is not always more prominent than delays in other developmental areas. The discrepancy between the clinical impression and formal testing underscores the importance of applying standardized tests in children with developmental delays. Screening for Cr deficiency by metabolite analysis of body fluids or proton magnetic resonance spectroscopy of the brain deficiency should be considered in any child with global developmental delay/mental retardation lacking clues for an alternative etiology.

Amino Acids↗

PubMed1998

Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency.

We describe a 6 1/2-year-old-girl presenting with a unique phenotype and dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency (1.6% of control activity in cultured fibroblasts), a peroxisomal enzyme deficiency which was reported previously to cause rhizomelic chondroplasia punctata (RCDP). Her phenotype is less severe than that seen in classical RCDP, and is notable for short stature, microcataracts, normal limbs, mild hypotonia, and severe mental retardation. Epiphyseal stippling is present. This patient illustrates the variability of peroxisomal disorders whereby a specific defect in peroxisomal plasmalogen synthesis may lead to several phenotypes. Her case also suggests that children presenting with deficient growth, developmental delay, and epiphyseal stippling should be screened carefully for peroxisomal disorders, with measurement of plasmalogens in addition to very long chain fatty acids.

Acyltransferases↗

PubMed2007

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.

High-resolution array CGH utilizing sets of overlapping BAC and PAC clones ("tiling path") covering the whole genome is a powerful novel tool for fast detection of submicroscopic chromosome deletions or duplications. We describe the successful application of a submegabase resolution whole genome "tiling path" BAC array to confirm and characterize a de novo interstitial deletion of chromosome 15. The deletion has a size of 5.3 Mb and is located within chromosome band 15q14, distal to the Prader-Willi/Angelman region. The affected girl had a heart defect, cleft palate, recurrent infections, and developmental delay. In contrast to GTG banding, array CGH determined the exact number of deleted genes and thus allowed the identification of candidate genes for cleft palate (GREM1, CX36, MEIS2), congenital heart defect (ACTC, GREM1, CX36, MEIS2), and mental retardation (ARHGAP11A, CHRNA7, CHRM5).

Adult↗

PubMed2006

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).

BACKGROUND: Deletion of 15q21q22 is a rare chromosomal anomaly. To date, there have been nine reports describing ten individuals with different segmental losses involving 15q21 and 15q22. Many of these individuals have common features of growth retardation, hypotonia and moderate to severe mental retardation. Congenital heart disease has been described in three individuals with interstitial deletion involving this region of chromosome 15. CASE PRESENTATION: We report a child with coarctation of the aorta, partial agenesis of corpus callosum and mild to moderate developmental delay, with a de novo deletion of 15q21.1q22.2, detected by the array Comparative Genomic Hybridization (CGH). We utilized chromosome 15-specific microarray-based CGH to define the chromosomal breakpoints in this patient. CONCLUSION: This is the first description of mapping of an interstitial deletion involving the chromosome 15q21q22 segment using the chromosome 15-specific array-CGH. The report also expands the spectrum of clinical phenotype associated with 15q21q22 deletion.

Aortic Coarctation↗

PubMedDate not supplied

The progress of developmentally delayed pre-school children in a home-training scheme.

The present study compared the rates of development of a group of 35 pre-school children in a home-training scheme. The children entered the service at different ages and suffered from different disabilities. The families received weekly visiting from a home advisor, who was specially trained to develop skills in the parents to help their children. Those who developed most rapidly were the group of environmentally deprived children. The non-specific developmentally delayed and Down's syndrome children progressed well during the study period. The children who suffered from cerebral palsy and those with visual handicaps developed at a very slow rate, despite the training that they were receiving. This finding may reflect the severity of their handicaps but also it suggests that the needs of these particular groups should be further examined. The age of entry to the scheme did not seem to be an important variable. The individual variability within each specified group was wide.

Child Development↗

PubMed2006

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

Duplicons, that is, DNA sequences with minimum length 10 kb and a high sequence similarity, are known to cause unequal homologous recombination, leading to deletions and the reciprocal duplications. In this study, we designed a Multiplex Amplifiable Probe Hybridisation (MAPH) assay containing 63 exon-specific single-copy sequences from within a selection of the 169 regions flanked by duplicons that were identified, at a first pass, in 2001. Subsequently, we determined the frequency of chromosomal rearrangements among patients with developmental delay (DD) and/or congenital malformations (CM). In addition, we tried to identify new regions involved in DD/CM using the same assay. In 105 patients, six imbalances (5.8%) were detected and verified. Three of these were located in microdeletion-related regions, two alterations were polymorphic duplications and the effect of the last alteration is currently unknown. The same study population was tested for rearrangements in regions with no known duplicons nearby, using a set of probes derived from 58 function-selected genes. The latter screening revealed two alterations. As expected, the alteration frequency per unit of DNA is much higher in regions flanked by duplicons (fraction of the genome tested: 5.2%) compared to regions without known duplicons nearby (fraction of the genome tested: 24.5-90.2%). We were able to detect three novel rearrangements, including the previously undescribed reciprocal duplication of the Williams Beuren critical region, a subduplicon alteration within this region and a duplication on chromosome band 16p13.11. Our results support the hypothesis that regions flanked by duplicons are enriched for copy number variations.

Child↗

PubMed1998

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

Mutation screening in neurofibromatosis type 1 (NF1) families has long been hampered by the complexity of the NF1 gene. By using a novel multi-track screening strategy, 67 NF1 families (54 two-generation, 13 three-generation) with a de novo mutation in the germline of the first generation were studied with two extragenic and 11 intragenic markers. The pathological lesion was identified in 31 cases. Loss of heterozygosity (LOH) in the affected individual revealed a gross gene deletion in 15 of the two-generation families; in 12 (80%) of them, the deletion was maternally derived. Eleven patients with a gross deletion exhibited developmental delay, ten had dysmorphic features and six manifested a learning disability. No gross deletion was apparent in any of the 13 three-generation families, suggesting that such lesions are subject to more intense selection. In these families, the new mutation was of paternal origin in 11 kindreds and the underlying mutational event could be characterised in three of them.

Adolescent↗

PubMedDate not supplied

Neurocognitive function and joint attention ability in young children with autism spectrum disorder versus developmental delay.

Studies have shown that young children with autism are not impaired on prefrontal tasks relative to what would be expected for their mental age, raising questions about the executive dysfunction hypothesis of autism. These studies did not include ventromedial prefrontal tasks, however. The present study examined whether young children with autism spectrum disorder (ASD) are impaired on ventromedial prefrontal tasks, and whether performance on such tasks is correlated with a core autism symptom, joint attention ability. Seventy-two 3- to 4-year-old children with ASD, 34 3- to 4-year-old developmentally delayed children, and 39 12- to 46-month-old typically developing children, matched on mental age, were administered ventromedial and dorsolateral prefrontal tasks and joint attention tasks. Children with ASD performed similarly to comparison groups on all executive function tasks, indicating that at this early age, there is no autism-specific pattern of executive dysfunction. Ventromedial, but not dorsolateral, prefrontal task performance was strongly correlated with joint attention ability, however. The ventromedial prefrontal cortex is hypothesized to play a role in the development of joint attention and possibly some aspects of the autistic syndrome.

Attention↗