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Reasons for living in parents of developmentally delayed children.

When children are diagnosed with developmental delays, their parents may experience psychological turmoil similar to that experienced by suicidal individuals. We sought to identify adaptive characteristics that may or may not be present in parents of children with developmental delays. Forty-nine children, with disabilities ranging from mild to severe, and their parents, were administered the Reasons for Living Inventory. No significant differences were revealed between men and women, or between individuals in 1-parent versus 2-parent households. The experience of having a disabled child may help to strengthen adaptive characteristics and, possibly, reduce the risk of suicide.

Adaptation, Psychological↗

Developmental delay and poverty in the strabismus clinic.

BACKGROUND: Strabismus and poverty are more common among developmentally delayed children. Poverty is difficult to define, but qualification for Medicaid benefits has been used as an indicator in the past. METHODS: There was a retrospective review of 95 patients with strabismus younger than 7 years who were seen in the Department of Pediatric Ophthalmology at the Albany Medical Center for a 12-month period and were reviewed for the presence or absence of developmental delay. These patients were selected from 2 groups: one with Medicaid coverage and one without. RESULTS: Developmental delays were noted in 13 patients without Medicaid (27.0%) and in 26 patients with Medicaid (55.3%) (P = .0096). Patients with Medicaid were less likely to name Allen pictures by age 3 years (P = .0003). CONCLUSIONS: Poverty is more commonly associated with delays in patients with strabismus, and this should alert ophthalmologists who work with Medicaid patients to seek to identify the presence of developmental delay in managing the care of these patients.

Child↗

Diffusion-tensor MR imaging in children with developmental delay: preliminary findings.

PURPOSE: To determine whether diffusion-tensor magnetic resonance (MR) imaging can depict abnormalities in patients with a diagnosis of developmental delay but structurally normal brain MR imaging results. MATERIALS AND METHODS: Twenty pediatric patients who received a diagnosis of developmental delay underwent brain MR examinations, including diffusion-tensor MR imaging. The MR findings in these patients were compared with those in 10 age-matched neurodevelopmentally healthy children. Diffusion constant (Dav) and anisotropy were measured bilaterally in regions of interest in the centrum semiovale, corona radiata, internal capsule, corpus callosum, and subcortical white matter of the frontal and parieto-occipital lobes. By using a one-tailed Student t test in the positive direction for Dav and in the negative direction for anisotropy and P <.05 to indicate a significant difference, the Dav and anisotropy values for children with developmental delay were compared with those for children who were neurodevelopmentally healthy. RESULTS: The children with developmental delay had significant increases in Dav in all measured structures (P, <.001 to <.03). Significant decreases in anisotropy were detected in all white matter fiber tracts studied (P, <.001 to <.03) except the posterior limb of the internal capsule. CONCLUSION: In the children with developmental delay, diffusion-tensor MR imaging depicted decreases in anisotropy and increases in Dav in the white matter fiber tracts, which appeared to be normal at conventional MR imaging.

Anisotropy↗

Etiologic yield of subspecialists' evaluation of young children with global developmental delay.

OBJECTIVE: To determine the etiologic yield of subspecialists' evaluation of young children with global developmental delay. In addition, variables that may predict finding an underlying etiology were also identified. METHODS: All children <5 years of age, referred over an 18-month period to subspecialty services for initial evaluation of a suspected developmental delay, were prospectively enrolled. Diagnostic yield was ascertained after the completion of clinical assessments and laboratory investigations requested by the evaluating physician. RESULTS: Ninety-nine children (71 boys) were found to have global developmental delay; 96% had a mild or moderate delay documented. An etiologic diagnosis was determined in 44. Four diagnoses (cerebral dysgenesis, hypoxic-ischemic encephalopathy, toxin exposure, chromosomal abnormalities) accounted for 34 of 44 (77%) of the diagnoses made. The presence of co-existing autistic traits was associated with significantly decreased diagnostic yield (0/19 vs 44/80, P <.0001), whereas specific historical features (eg, family history, toxin exposure, and perinatal difficulty; 23/32 vs 21/67, P =.0002) and findings on physical examination (eg, dysmorphology, microcephaly, and focal motor findings; 35/48 vs 9/51, P <.0001) were significantly associated with identifying a diagnosis. Multiple logistic regression analysis identified antenatal toxin exposure, microcephaly, focal motor findings, and the absence of autistic traits as significant predictor variables for the identification of an etiology. CONCLUSION: An etiologic diagnosis is often possible in the young child with global developmental delay, particularly in the absence of autistic features. Etiologic yield is augmented by presence of specific findings on history or physical examination on initial assessment.

Autistic Disorder↗

Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections.

A boy with developmental delay, particularly of speech, a distinct face, antineutrophil cytoplasmic antibodies, and recurrent infections was found to have an apparently balanced de novo t(1;6)(q32.3;q22.3) translocation. Fluorescent in situ hybridisation with BAC/PAC clones and long range polymerase chain reaction products assessed in the human genome sequence localised the chromosome 1 breakpoint to a 9.8 kb segment within a hypothetical gene, LOC388735, and the chromosome 6 breakpoint to a 12.8 kb segment in intron 4 of the T-cell lymphoma breakpoint-associated target 1 (TCBA1) gene. Disruption and/or formation of TCBA1 fusion genes in T cell lymphoma and leukaemia cell lines suggests a role for this gene in tumorigenesis. The isolated mouse Tcba1 gene shows 91% amino acid sequence similarity with human TCBA1. It is expressed in fetal and adult brain and with lower levels in liver and testis. The human gene has been reported to be expressed exclusively in brain and thymus. Reduced TCBA1 expression in brain and thymus may explain at least some of the symptoms in this patient. It is concluded that germline alterations of the TCBA1 gene are associated with developmental delay and typical physical features.

Amino Acid Sequence↗

Evaluating pain induced by venipuncture in pediatric patients with developmental delay.

OBJECTIVES: Little attention has been paid to the assessment of pain in children with developmental delay. The aim of this study was to explore several methods for assessing pain during venipuncture in this population of children, using classic and modified scales to evaluate the children's response to simplified tools. METHODS: Sixteen children with mild or moderate developmental delay were evaluated using three standard self-rating scales (Visual Analog Scale [VAS], Eland Scale, and Faces Scale) and three modified methods (Cube Test, Modified Eland Scale, and Modified Faces Scale), recording subjective self-ratings and behavioral expressions of pain during a venipuncture procedure, apart from the initial fear. The children's pain and reaction time were assessed by an outside observer, while their pain and fear were also evaluated by the parents. RESULTS: The VAS was used without difficulty by all the children and revealed a good consistency with the Cube Test. The parents' and neutral observer's indirect pain assessment was also consistent with the child's evaluations. The Eland Scale proved difficult to use, especially for Down's syndrome children, while its modified version was easier. Results emerging from the original and modified Faces Scales were inconsistent. Frightened children attributed higher pain scores, demonstrating that negative emotions exacerbate the experience of pain in developmentally delayed children. The patients showed a limited capacity for verbal and behavioral expression in reaction to the painful stimulus (especially the Down's cases). DISCUSSION: These findings support the conviction that even developmentally delayed children can use self-rating methods effectively. This sector demands further, more extensive study, including the development of simplified tools, to ensure an adequate pain assessment and optimal antalgic approach to this particular pediatric population.

Adolescent↗

Practice parameter: evaluation of the child with global developmental delay [RETIRED]: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.

OBJECTIVE: To make evidence-based recommendations concerning the evaluation of the child with a nonprogressive global developmental delay. METHODS: Relevant literature was reviewed, abstracted, and classified. Recommendations were based on a four-tiered scheme of evidence classification. RESULTS: Global developmental delay is common and affects 1% to 3% of children. Given yields of about 1%, routine metabolic screening is not indicated in the initial evaluation of a child with global developmental delay. Because of the higher yield (3.5% to 10%), even in the absence of dysmorphic features or features suggestive of a specific syndrome, routine cytogenetic studies and molecular testing for the fragile X mutation are recommended. The diagnosis of Rett syndrome should be considered in girls with unexplained moderate to severe developmental delay. Additional genetic studies (e.g., subtelomeric chromosomal rearrangements) may also be considered in selected children. Evaluation of serum lead levels should be restricted to those children with identifiable risk factors for excessive lead exposure. Thyroid studies need not be undertaken (unless clinically indicated) if the child underwent newborn screening. An EEG is not recommended as part of the initial evaluation unless there are historical features suggestive of epilepsy or a specific epileptic syndrome. Routine neuroimaging, with MRI preferred to CT, is recommended particularly if abnormalities are found on physical examination. Because of the increased incidence of visual and auditory impairments, children with global developmental delay may undergo appropriate visual and audiometric assessment at the time of diagnosis. CONCLUSIONS: A specific etiology can be determined in the majority of children with global developmental delay. Certain routine screening tests are indicated and depending on history and examination findings, additional specific testing may be performed.

Algorithms↗

Profiles of sensorimotor development in children with autism and with developmental delay.

Aim of the study was (1) to evaluate sensorimotor development of children with autism in comparison with that of children with developmental delay, (2) to verify the possible unevenness of the developmental profiles through correlations amongst domains and between domains and chronological age. 46 children with autism were compared with 45 children with developmental delay. Mean chronological age was 3.7 yr. in children with autism and 3.6 yr. in children with mental retardation. Mean mental age was 1.3 yr. in children with autism and 1.1 yr. in children with developmental delay. Ordinal scales of Uzgiris-Hunt show that the two groups score significantly differently on the scales of Object Permanence, Means-Ends, Operational Causality, and Spatial Relations and that scores were higher for the children with autism. The comparison made between the developmental levels of each group indicate that the sensorimotor profile in children with developmental delay is fairly homogeneous, while it appears uneven in autistic children, for whom Object Permanence appears to be the most advanced skill, Verbal and Gestural Imitation and Schemes for Relating to Objects the lowest. The results are in keeping with the assumption that the pivotal defect of autism is a deficit in social interactive skills.

Autistic Disorder↗

Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development.

We report on an individual with developmental delays, short stature, skeletal abnormalities, normal pubertal development, expansion of the fragile X triplet repeat, as well as an isodicentric X chromosome. S is a 19-year-old woman who presented for evaluation of developmental delay. Pregnancy was complicated by a threatened miscarriage. She was a healthy child with intellectual impairment noted in infancy. Although she had global delays, speech was noted to be disproportionately delayed with few words until age 3.5 years. Facial appearance was consistent with fragile X syndrome. Age of onset of menses was 11 years with normal breast development. A maternal male second cousin had been identified with fragile X syndrome based on DNA studies. The mother of this child (S's maternal first cousin) and the grandfather (S's maternal uncle) were both intellectually normal but were identified as carrying triplet expansions in the premutation range. S's mother had some school difficulties but was not identified as having global delays. Molecular analysis of S's fragile X alleles noted an expansion of more than 400 CGG repeats in one allele. Routine cytogenetic studies of peripheral blood noted the presence of an isodicentric X in 81of 86 cells scored. Five of 86 cells were noted to be 45,X. Cytogenetic fra(X) studies from peripheral blood showed that the structurally normal chromosome had the fragile site in approximately 16% of the cells. Analysis of maternal fragile X alleles identified an allele with an expansion to approximately 110 repeats. FMRP studies detected the expression of the protein in 24% of cells studied. To our knowledge, this is the first patient reported with an isodicentric X and fragile X syndrome. Whereas her clinical phenotype is suggestive of fragile X syndrome, her skeletal abnormalities may represent the presence of the isodicentric X. Treatment of S with 20 mg/day of Prozac improved her behavior. In the climate of cost con trol, this individual reinforces the recommendation of obtaining chromosomes on individuals with developmental delay even with a family history of fragile X syndrome.

Abnormalities, Multiple↗

Quantitative analysis of the corpus callosum in children with cerebral palsy and developmental delay: correlation with cerebral white matter volume.

BACKGROUND: The direct quantitative correlation between thickness of the corpus callosum and volume of cerebral white matter in children with cerebral palsy and developmental delay has not been demonstrated. OBJECTIVE: This study was conducted to quantitatively correlate the thickness of the corpus callosum with the volume of cerebral white matter in children with cerebral palsy and developmental delay. MATERIAL AND METHODS: A clinical database of 70 children with cerebral palsy and developmental delay was established with children between the ages of 1 and 5 years. These children also demonstrated abnormal periventricular T2 hyperintensities associated with and without ventriculomegaly. Mid-sagittal T1-weighted images were used to measure the thickness (genu, mid-body, and splenium) and length of the corpus callosum. Volumes of interest were digitized based on gray-scale densities to define the hemispheric cerebral white matter on axial T2-weighted and FLAIR images. The thickness of the mid-body of the corpus callosum was correlated with cerebral white matter volume. Subgroup analysis was also performed to examine the relationship of this correlation with both gestational age and neuromotor outcome. Statistical analysis was performed using analysis of variance and Pearson correlation coefficients. RESULTS: There was a positive correlation between the thickness of the mid-body of the corpus callosum and the volume of cerebral white matter across all children studied (R=0.665, P=0.0001). This correlation was not dependent on gestational age. The thickness of the mid-body of the corpus callosum was decreased in the spastic diplegia group compared to the two other groups (hypotonia and developmental delay only; P<0.0001). Within each neuromotor subgroup, there was a positive correlation between thickness of the mid-body of the corpus callosum and volume of the cerebral white matter. CONCLUSION: The thickness of the mid-body of the corpus callosum positively correlates with volume of cerebral white matter in children with cerebral palsy and developmental delay, regardless of gestational age or neuromotor outcome. Assessment of the thickness of the corpus callosum might help in estimating the extent of the loss of volume of cerebral white matter in children with a broad spectrum of periventricular white matter injury.

Agenesis of Corpus Callosum↗

Concurrent validity of the scale for screening of developmental delay.

This study establishes the concurrent validity of the Screening Scale of Developmental Delay II (SSDD-II) with the Bayley Scale of Infant Development II (BSID-II). Three hundred and seventy-nine children referred by pediatricians at the Clinic of Developmental Delay at the Kaohsiung Medical University-Medical Center were tested using the SSDD-II, and about 1 week to 1 month later, they were tested again using the BSID-II. The results indicate that (1) the SSDD-II score increased as age increased, fitting the principle of developmental sequence. (2) The raw scores of the Mental and Motor scales of the BSID-II significantly correlated with the five subscales of the SSDD-II. (3) The three facet scale scores (language, cognitive and motor) of the BSID-II also significantly correlated with the five subscales of the SSDD-II. The SSDD-II has a high concurrent validity, and is a convenient scale to use to screen children for developmental delay in clinical practice in Taiwan.

Child↗

Developmental delay in offspring of parents with affective disorders and depression: psycho-social sequels or a constitutional state?

At an early age, offspring of parents with affective disorders and long-lasting depression exhibited elevated rates of psychomotor and language delay, behavior problems and a greater need for somatic psychiatric care compared to matched control children (Harjan 1988, I, II, III). The present report analyses the problem of these children regarding psychomotor and language delay (PMLD) seen in a great number of children and somewhat more often in boys compared with those without this handicap. The study shows that children with PMLD of parents with affective disorders and long-lasting depression differ from those without PMLD with respect to early behavior problems, need for child psychiatric care during latency, and they are loaded by more broken homes and longer stay in pediatric wards. The two groups are similar in aspects of low social standing, mean parental age, perinatal risk factors, delayed somatic growth, incidence of psychiatric registrations and rate and nature of somatic disorders. The developmental delay may be a hereditary disturbance either related to affective disorder or to a concomitant factor, or the developmental delay may relate to the adverse environmental situation. It is also obvious that simultaneous parental illness, social breakdown and genetic constitution form a critical multifactoral loading on the child. The high rate of developmental delay among offspring of parents with affective disorders stresses the importance of giving attention to the children of parents with affective disorders and long-lasting depression. The developmental delay per se is an important disorder for early behavior problems and need for child and youth psychiatric care.

Adolescent↗

Sociosexual knowledge, experience, attitudes, and interests of individuals with autistic disorder and developmental delay.

Thirty-one individuals, 15 with autistic disorder and 16 with developmental delay, male and female, were asked to select from a series of drawings depicting sexually relevant activities and to define them. In addition they were asked to describe their sexual experiences, attitudes, and interests, using a semistructured interview format. Ability to select through pointing out sexually relevant body parts or activities was not different by level of functioning, group, or gender. There were differences in providing a sociosexual label, however, with better performance for those with developmental delay and for the higher functioning. No differences were evident for sexual experiences, likely because of the considerable variability across subjects and types of activity, with some individuals reporting very many and others very few. As to attitudes, individuals with autistic disorder endorsed more sexual activities than those with developmental delay. Higher knowledge of sexuality terms and activities was inversely related to their endorsement. Literalness and perseveration were evident in the responses of some, primarily those with autistic disorder. Results are discussed for their relevance to the reliability and validity of information on sexual awareness among the developmentally disabled. Suggestions for future research are offered.

Adolescent↗

Applicability of BSID-II in diagnosing developmental delay at Kaohsiung area.

The purpose of this study was to investigate the applicability of BSID-II in diagnosing children with developmental delay in Kaohsuing area. Five hundred and forty-four children, all who were patients of Developmental Delay Clinic of Kaohsuing Medical University, participated in this study. The instrument of this study was the Bayley Scales of Infant Development--second edition (BSID-II), the primary value of which was in diagnosing developmental delay and planning intervention strategies. The standardization and statistical properties of BSID-II made it one of the best measures of infant development available. The findings as follows: (1) the alpha coefficients were between .95 and .99, which were higher than data on manual of BSID-II; (2) the reproducibilities, which were different with each examiner, were between .9503 and .9633, that were good enough to be a developmental scale; (3) Standard Errors of Measurement were between 2.8589 and 3.8206. It was a restricted sample so that these also were lower than the data on manual of BSID-II. This evidence shows BSID-II is a highly reliable instrument of developmental assessment at Kaohsuing area. A special norm for developmentally delayed children and quality control of examiners are suggested.

Child, Preschool↗

Reduced relationship to cortical white matter volume revealed by tractography-based segmentation of the corpus callosum in young children with developmental delay.

OBJECTIVE: The corpus callosum is the primary anatomical substrate for interhemispheric communication, which is important for a range of adaptive and cognitive behaviors in early development. Previous studies that have measured the corpus callosum in developmental populations have been limited by the use of rather arbitrary methods of subdividing the corpus callosum. The purpose of this study was to measure the corpus callosum in a clinical group of developmentally delayed children using a subdivision that more accurately reflected the anatomical properties of the corpus callosum. METHOD: The authors applied tractography to subdivide the corpus callosum into regions corresponding to the cortical regions to and from which its fibers travel in a clinical group of very young children with developmental delay, a precursor to general mental retardation, in comparison with typically developing children. RESULTS: The data demonstrate that the midsagittal area of the entire corpus callosum is reduced in children presenting with developmental delay, reflected in the smaller area of each of the fiber-based callosal subdivisions. In addition, while the area of each subdivision was strongly and significantly correlated with the corresponding cortical white matter volume in comparison subjects, this correlation was prominently absent in the developmentally delayed group. CONCLUSIONS: A fiber-based subdivision successfully separates lobar regions of the corpus callosum, and the areas of these regions distinguish a developmentally delayed clinical group from the comparison group. This distinction was evident both in the area measurements themselves and in their correlation to the white matter volumes of the corresponding cortical lobes.

Atrophy↗

Mothers' perceptions of the behavior and problem-solving skills of their developmentally delayed sons.

Mothers of 17 developmentally delayed preschool boys and 17 age-matched control boys were asked to predict how well their sons would score on the Preschool Embedded Figures Test, to estimate "the average child's" score on the test, and to evaluate their son's attentiveness and cooperation during testing. Mothers of delayed boys were found to hold an idealized view of "the average child's" problem-solving skills, were significantly less accurate than were mothers of control boys in predicting their sons' level of performance, and tended to rate their sons as less cooperative and attentive than the boys were rated by an independent observer. The impact of such distortions in maternal perceptions and expectations were discussed.

Attention↗

Clinical ethics and developmental delay.

The vulnerability of the young child with a developmental delay raises specific concerns regarding the provision of medical care to this population. Specific areas of concern include the means and standards by which a valid consent for intervention is obtained and exercised, as well as the issue of justice that refers, in this context, to the distribution of what are increasingly perceived as scarce medical and economic resources. Furthermore, future advances in providing care to this population will need to be predicated on clinical research that needs to be ethically sound. This article highlights basic ethical principles and their application to these specific issues with respect to children with developmental delay.

Child↗

Etiologic yield of single domain developmental delay: a prospective study.

OBJECTIVE: To determine the etiologic yield in young children with single domain developmental delay (either developmental language disorder or isolated motor delay) after a specialty diagnostic evaluation. METHODS: During an 18-month period, all children <5 years of age, who were consecutively referred to pediatric neurology or developmental pediatric clinics at a single tertiary pediatric center, were prospectively enrolled. Etiologic yield was determined after completion of clinical assessments and selected laboratory studies requested by the evaluating physician. RESULTS: Seventy-two children (60 boys) were found to have a developmental language disorder, and 22 children (11 boys) had isolated motor delay, of whom 6 had an associated diagnosis of cerebral palsy. An etiologic diagnosis was rarely made in the children with developmental language disorder (3/72, 4.1%). Laboratory investigations (metabolic, cytogenetic, imaging), aside from audiometry, were uniformly uninformative. In those children with isolated motor delay, an etiology was apparent in more than half (13/22, 59%). Slightly more than half (7/13, 54%) of etiologies identified in this group were potentially preventable. Successful etiologic determination in children with motor delay often had an impact on recurrence risk estimation, medical management, or specific therapy offered (8/13, 62%). The presence of physical findings on initial assessment was found to be highly predictive of successful etiologic determination in children with isolated motor delay (13/17 vs 0/5, P =.002). CONCLUSION: Etiologic yield differs substantially according to the subgroup of single domain developmental delay.

Cerebral Palsy↗