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Mild developmental delay in terminal chromosome 6p deletion.

Deletions involving the short arm of chromosome 6 are relatively rare. Although features of this condition are variable, common findings include developmental delay, ocular abnormalities, hearing loss, and cardiac defects. In an effort to define further the clinical variability of this condition, we report a 6-year-old female with a de novo terminal deletion of chromosome 6 at band 6p24, with mild gross motor delays and normal cognition.

Abnormalities, Multiple↗

Family responses to young children with developmental delays: accommodation activity in ecological and cultural context.

In this study 680 accommodations or proactive efforts to sustain a family environment in 10 ecocultural domains were reliably scored for 102 Euro-American families of young children with developmental delays. The families reported substantial accommodation activity. Results showed that accommodations (a) in the domains of child care and service access were correlated with children's problems that impact the daily routine; (b) in the domains of subsistence changes, seeking information, and roles of fathers were related to parents' job and career circumstances, with more modest links to socioeconomic status; and (c) were not associated with child developmental test scores. Accommodation to children with delays and disabilities is a family-level variable that complements the more common research focus on individual parent stress and coping.

Adaptation, Psychological↗

[Developmental delay, anxiety, deprivation and neglect: psychodynamics of a case of new problems].

This paper presents the case of a young child who displays an important developmental delay as well as anxiety symptoms. His condition is seen as concomitant to his impoverished environment. An analysis of his living circumstances permits one to make the reasonable hypothesis that the causal factor for the child's condition is the pathological interpersonal relations that exist between the child and his parents rather than the objective factors of his environment. Bibliographical material from various sources is used to reinforce the hypothesis. As a consequence of this analysis and hypothesis, concepts such as maltreatment, neglect, abuse, and deprivation are seen as having advanced knowledge when they appeared, but as impeding research at the present time.

Alcoholism↗

Home activity programs in families with children presenting with global developmental delays: evaluation and parental perceptions.

The present study presents a descriptive evaluation of home activity programs (HAP) in families living with a child diagnosed with global developmental delay (GDD) and investigates parental perceptions about the use of HAPs. Forty-one families were selected from an initial pool of 95. Application of the HAP--delivered by an occupational therapist, physical therapist or speech therapist--was evaluated via a telephone survey. Data about parental perceptions of the HAP was collected. The results indicate a high degree of compliance with the program; 31 families were still using the HAP after 7 months. The degree of compliance is dependent on the degree of support given by the therapist and on the size of the family and many parents who maintained high compliance seemed to be those most vulnerable to stress. When giving out HAPs, therapists should be aware of the great demands they place on mothers.

Adult↗

Behavior problems and parenting stress in families of three-year-old children with and without developmental delays.

Children and adolescents with mental retardation are at heightened risk for mental disorder. We examined early evidence of behavior problems in 225 three-year-old children with or without developmental delays and the relative impact of cognitive delays and problem behaviors on their parents. Staff-completed Bayley Behavior Scales and parent-completed Child Behavior Checklists (CBCLs) showed greater problems in children with delays than in those without delays. Children with delays were 3 to 4 times as likely to have a total CBCL score within the clinical range. Parenting stress was higher in delayed condition families. Regression analyses revealed that the extent of child behavior problems was a much stronger contributor to parenting stress than was the child's cognitive delay.

Adolescent↗

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

A patient with sideroblastic anaemia, development delay, and trichothiodystrophy is presented. Trichothiodystrophy is a feature of several autosomal recessive diseases. Photosensitivity, failure to thrive, and developmental delay are commonly observed in affected cases. X linked inheritance accounts for the bulk of cases with sideroblastic anaemia. This case highlights the importance of routine hair microscopy in cases of atypical ectodermal dysplasia.

Anemia, Sideroblastic↗

Frequency of knowledge of results and motor learning in persons with developmental delay.

The purpose of this study was to investigate the effect of high versus low frequency knowledge of results (KR) in a group of 16 individuals with developmental delay and in gender and age-matched average individuals learning a motor skill on a laptop computer. Participants were randomly assigned to either a 100% KR or a 50% KR group. KR was provided during the acquisition phase according to group assignment as participants learned the motor skill, whereas no KR was provided during the retention phase. Results indicated both populations who received 50% KR in the acquisition phase demonstrated better performance in the retention phase than those who received 100% KR. The results of this study suggest that, as has been found in the average population, feedback that is too frequent can interfere with learning and retention of tasks for individuals with developmental disabilities (DD). Limitations involved the small sample size along with the task potentially being artificial in nature. Future research is needed to study further the effects of frequency of KR on skill acquisition, particularly in instrumental activities of daily living in this population.

Adult↗

Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of the abnormal chromosomes.

Two de novo abnormal derivatives of chromosome 15, inv dup(15) and dup(15q) were found in a girl with developmental delay and mild dysmorphological signs. Fluorescence in situ hybridization, using DNA probes of the Prader-Willi/Angelman syndromes (PWS/AS) critical region and chromosome-15-specific alpha-satellite, combined with molecular analysis using dinucleotide repeat polymorphisms within the PWS/AS region and the parent-of-origin specific methylation sites at the locus D15S63, shed light on how the abnormal karyotype was formed. We suggest that a translocation between the two homologues of maternal chromosomes 15 resulted in the formation of dup(15q) and two reciprocal products: an acentric fragment of 15q that was lost and a centric fragment that underwent U-type reunion to form inv dup(15).

Angelman Syndrome↗

Special needs of low-income mothers of developmentally delayed children.

The needs that were created or intensified for 36 low-income mothers in the first years after learning that they were the parents of a developmentally delayed child were investigated, and intervention strategies to help these mothers get their special needs met were identified. Results suggest that the overwhelming need of these mothers was to learn how to cope with the many unknowns about their child's future and that an effective intervention strategy might be the establishment of groups run by and for parents in conjunction with early intervention programs for the children.

Adaptation, Psychological↗

A 20 year review of punishment and alternative methods to treat problem behaviors in developmentally delayed persons.

Relevant journals were reviewed (n = 23) for a 20 year period (1967 to 1987) to assess the status of treatments for severe behavior problems of developmentally delayed persons. A hand search of journals was made; 382 studies were identified. Procedures were analyzed by problem behaviors treated, side effects reported, whether the procedure involved painful stimuli, nonpainful stimuli, food satiation, positive procedures, extinction or combinations of methods. The number of studies reported yearly was also plotted. The implication of these data for federal and state policy makers and for treatment programs dealing with difficult to treat clients is discussed.

Behavior Therapy↗

Meiotic origin of two ring chromosomes 18 in a girl with developmental delay.

We report on the cytogenetic, fluorescence in situ hybridization (FISH), and molecular results obtained for a patient with a mild and nonspecific pattern of minor anomalies and developmental delay. In the proband's karyotype one chromosome 18 was replaced by a ring chromosome 18 in all metaphases, with deletion of the terminal regions. Furthermore, 56% of the metaphases contained a supernumerary small ring chromosome. Microdissection followed by FISH analysis demonstrated that the small ring chromosome consisted of material from the pericentromeric region of chromosome 18. The karyotype was defined as 46,XX,r(18)(p11.3q23)[88]/47,XX,r(18)(p11.3q23)+r(18)(p11.22q12.2)[112]. Thus, the patient has a deletion at 18pter and at 18qter, and a mosaic partial trisomy of the pericentromeric region of chromosome 18. We undertook molecular analysis using DNA samples of the patient and her parents in order to clarify the origin and possible mode of formation of the chromosome abnormalities. Our results show a paternal origin of the structurally normal chromosome 18 and a maternal origin for both ring chromosomes 18. Interestingly, the smaller ring chromosome did not arise postzygotically from the larger ring, since the two ring chromosomes contain genetic material derived from the two different maternal chromosomes 18. The abnormalities appear to have arisen during a meiotic division, and it could be speculated that both ring chromosomes 18 arose simultaneously due to complex pairing and recombination events. After fertilization, the small ring chromosome was lost in a subset of cells, thus leading to mosaicism.

Child↗

Reversal of developmental delays in iron-deficient anaemic infants treated with iron.

Iron-deficient anaemic infants perform worse in tests of mental and motor development than do iron-sufficient infants of a comparable age. A randomised, double-blind trial was done to monitor the effects of iron supplementation on performance in the Bayley scales of mental and motor development among 12-18-month-old infants in Indonesia. Iron-deficient anaemic infants (n = 50) were assigned randomly to receive dietary ferrous sulphate or placebo for 4 month. Similar treatment randomisation was done among nonanaemic iron-deficient (n = 29) and iron-sufficient (n = 47) infants. Before intervention, the mean mental and motor scores of the iron-deficient anaemic infants were significantly (p < 0.01) lower than those of the nonanaemic iron-deficient and iron-sufficient classes. After intervention, developmental delays were reversed among iron-deficient anaemic infants who had received iron but they remained the same among placebo-treated iron-deficient anaemic infants. Neither ferrous sulphate nor placebo had significant effects on the scores of the other two iron-status classes. The poor performance of 12-18-month-old iron-deficient anaemic infants in the Bayley scales of mental and motor development can be improved to the level of performance of iron-sufficient infants by treatment with ferrous sulphate.

Administration, Oral↗

[Developmental delay in breastfed children due to inadequate diet of the mother].

Two infant boys of 7 and 12 months respectively who presented with symptoms of failure to thrive and developmental delay were diagnosed with vitamin B12 deficiency. This deficiency is a rare condition in infants living in developed countries. It does occur, however, in infants who are breastfed by mothers with an inadequate diet. Both of the children studied were breastfed by vegetarian mothers. Following vitamin suppletion, both children showed signs of recovery. The importance of considering vitamin deficiencies in similar infants presenting with failure to thrive is emphasized. Moreover, maternal dietary habits in breastfed children should be checked. To prevent irreversible neurological damage, early recognition of any nutritional deficiencies is important.

Adult↗

Play-language relationships in young children with developmental delays: implications for assessment.

The purpose of this longitudinal study was to determine whether the reported parallels between symbolic play and normal language development were evidenced in 6 children with developmental delays of varying etiologies. Subjects' play and language behavior over a 6-month period was videotaped and analyzed during free play and modeling tasks. Although results supported the correspondences previously reported between normal language development and symbolic play, the variability across observations in the present subjects was more marked than expected. Implications for clinical assessment are discussed.

Child, Preschool↗

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↗

Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers.

We describe two brothers born to consanguineous parents, who presented with hypotonia and hypoglycaemia in the neonatal period and later developed obesity and developmental delay. They had brachydactyly and similar facial features including a prominent forehead, low nasal bridge, midface hypoplasia, full lips, a small mouth, and small, low set ears with overfolded helices. Their sister had mild learning disabilities. No additional anomalies were found, and metabolic investigations including peroxisomal functions gave normal results. We suggest the patients have a hitherto unreported condition, with an autosomal or X-linked mode of inheritance.

Abnormalities, Multiple↗

Visual impairment among people with developmental delay.

The prevalence of visual impairment (V.I.) has been described in people living in large institutions, but there is no information about the prevalence among all adult people with developmental delay (D.D.). The present study shows that the prevalence is 10-fold that of adults without D.D. Caregivers have difficulties in assessing V.I., hence professional examinations for all are necessary. Many V.I. people with D.D. simply need corrective spectacles. V.I. people with D.D. often have additional disabilities, thus 50% of patients with optic nerve atrophy or with cortical V.I. have epilepsy, cerebral palsy or both. Half the individuals with D.D. and V.I. were unable to speak, walk alone or feed themselves.

Adolescent↗