Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.
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3-O-Methylglucose↗
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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.
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A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents.
We report on two sibs of consanguineous parents with osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, fits and severe psychomotor retardation.
Atrophy↗
Medical examination of the internationally adopted child: screening for infectious diseases and developmental delay.
Because of the number of internationally adopted children with undiagnosed disease, a defined set of screening tests for medical evaluation is now recommended. By and large, these tests are directed toward infectious diseases that are more common abroad than in the United States. In this article, the authors examine various aspects of screening and highlight tests that are useful in children from specified areas. They also review developmental issues that are of prime importance to these children and their new families.
Adoption↗
Delayed developmental neuro- and immunotoxicity of benzodiazepines.
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Animals↗
Choroid plexus papilloma associated with developmental delay.
Choroid plexus papillomas are rare, benign tumors of neuroectodermal origin usually observed in the lateral ventricles of children. The usual presenting signs of choroid plexus papillomas are related to hydrocephalus and increased intracranial pressure. A child presented to us with clinical features of delayed milestones, which was later diagnosed as a case of choroid plexus papilloma with hydrocephalus. He underwent complete excision of the tumour with gradual recovery of milestones.
Developmental Disabilities↗
Parental responses to their developmentally delayed children and the South Glamorgan Home Advisory Service.
This study was undertaken to investigate how parents who have a child with some degree of handicap describe their child's behaviour and their own feelings and adjustment to having such a child. Their response was compared with that of parents of age-matched children without any known development difficulties. The parents and children were grouped according to the manifested handicap of the child (Down's syndrome, developmental quotient (DQ) greater than 65, DQ less tha 65 with/without limb dysfunction and normal controls). The children's ages ranged from 4 to 126 months and they all had received the South Glamorgan Home Advisory Service (HAS) at some time. Sixty-one families completed attitude and behaviour rating scales and parents were asked to express their preferences for prescribed services. The attitude and rating scales were also completed by twenty-five control families with normal children. A consistent trend was revealed towards increasingly favourable attitudes and feelings from past to future, and the DQ less than 65, with/without limb dysfunction, group was found to require further investigation in terms of provision of appropriate services. A distinct preference was shown for the South Glamorgan Home Advisory Service.
Attitude↗
Evidence for accelerated skin wrinkling among developmentally delayed individuals with Down's syndrome.
Down's Syndrome (DS) is a genetic disorder involving mental retardation which is reported to be a condition of accelerated aging. However, few studies exist which examine age-dependent changes in DS and these studies fail to include a control group. In the present study a non-invasive, painless, and easily obtainable measure reflecting age-dependent topographical changes of the skin (skin wrinkling) was obtained in 15 DS subjects, 14 developmentally disabled (DD) (mentally retarded) controls (DD controls) and 16 healthy controls of similar ages ranging from 22 to 51 years. The healthy control group failed to show correlations of skin measures with age, as predicted for the age-range of these subjects, based on results of previous studies. However, the DS group showed significant correlations of all skin measures from relatively non-sun-exposed and sun-exposed skin sites, with age. The DD control also showed significant correlations with age of several but not all skin sites and the correlation coefficients tended to be less than that of the DS; at least, when contrasted with the healthy controls the DS showed greater values of several skin measures suggestive of accelerated skin wrinkling. These results provide evidence for accelerated aging of the skin, and possibly greater effects of sun-exposure on skin wrinkling, in DS and possibly (DD) individuals in contrast to healthy individuals without a genetic disorder and without mental retardation.
Adult↗
[Follow-up of psychiatric disorders and specific developmental delay disorders in special education students].
In a prospective longitudinal study 72 children who were attending a special school for children with learning disabilities in Erlangen were examined in 1990 and again in 1992/93. At the first examination the children's mean age was 7 years 1 month and at the second 8 years 10 months. The sample contained many more boys than girls. Reported here are the findings on the course of the psychiatric disorders and the specific developmental disorders of speech and language and motor function. There was a marked decrease in the prevalence of psychiatric disorders. Of the 17 children with a psychiatric disorder at follow-up, 13 (76%) also had a disorder at the start of the study and of the 23 with a psychiatric disorder at the start 13 (57%) still had a disorder at follow-up. Children with enuresis and those with disturbances of activity or attention had the best prognosis. The special school had a positive effect on conduct. The prevalence of specific developmental disorders also decreased over the two-year period. As expected, specific speech articulation disorders had the best prognosis. All other disorders had a poor prognosis. Increases in prevalence were mainly the result of different cutoff points for a given diagnosis at different ages. The high number of specific disorders of motor function at both time points is especially noteworthy.
Child↗
Growth retardation and developmental delay amongst inner-city children.
A whole population survey of an inner-city health district (population 130,000) was undertaken in order to study the association between social deprivation and non-organic growth delay in preschool children. Potential cases were identified from health clinic records. Cases comprised white, full-term singletons, whose weight and height lay below the tenth centile at 4 years of age. Allowance was made for parental stature. A comparison group was closely matched for socio-economic conditions, and other salient variables. Case children were comparatively significantly delayed in all areas of their cognitive development. One-third were seriously retarded and likely to require special education.
Body Height↗
Family responses to children with early developmental delays. II: Accommodation intensity and activity in early and middle childhood.
Families were interviewed about functional accommodations made to sustain daily routines for a child with disabilities. Accommodation intensities were unchanged from ages 3 to 7 and declined from 7 to 11. However, number of accommodation types increased dramatically from 3 to 11. By late childhood, on average, families broadened the scope of their accommodations but reduced the intensity with which they made them. Accommodations are a continuing feature of family adaptation to developmental disabilities in late childhood rather than a feature of certain developmental periods. They are most consistently associated with child characteristics that directly impact the daily routine.
Activities of Daily Living↗
Effects of mothers' locus of control for child improvement in a developmentally delayed sample.
A potentially important variable that has received little attention in the literature is the locus of control (LOC) a caregiver holds for child improvement, including its influence on the caregiver's treatment compliance and on actual child improvement. In this study, 131 mother-child dyads were assessed across 1 year, to evaluate the utility of the LOC construct in a practice setting. Children were approximately 4 years old at the first assessment, and all of them had been diagnosed with a developmental disability. Mothers' compliance with treatment (mothers' attendance at sessions; teachers' ratings of mothers' support and knowledge) was tracked, and measures of child development status and mothers' locus of control were administered. Statistical results indicated that mothers' locus of control was not significantly correlated with children's gains in development over the year. The mothers' beliefs about whether the child or chance would be responsible for improvement were associated with lower compliance with treatment, whereas the mothers' beliefs that child improvement was attributable to professional intervention were associated with enhanced involvement in treatment.
Adult↗
Physical anomalies and developmental delays in nonhuman primate infants exposed to weekly doses of ethanol during gestation.
Ethanol was orally administered once per week to 54 gravid pigtailed macaques (Macaca nemestrina) in doses of 0.0, 0.3, 0.6, 1.2, 1.8, 2.5 or 4.1 gm/kg from the 1st week in gestation or in doses of 2.5, 3.3, or 4.1 gm/kg from the 5th week. Mean maternal mean peak plasma ethanol concentrations (MPPEC) ranged from 24 +/- 6 mg/dl at the 0.3 gm/kg dose to 549 +/- 71 mg/dl at the 4.1 gm/kg dose. Thirty-three viable infants were followed from birth to 6 months of age and assessed for growth, health, congenital anomalies and developmental rate. Facial anomalies, growth deficiency, or central nervous system dysfunction were found in 57% of the alcohol-exposed animals. No animal showed all the features of the human fetal alcohol syndrome. Ten of the twelve animals (83%) with mean MPPEC above 140 mg/dl had evidence of a teratogenic impact. The animals with full gestational exposure to ethanol and mean MPPEC between 140 and 249 mg/dl had much more severe and consistent cognitive abnormalities than the animals with delayed gestational exposures, even though the latter were exposed to mean MPPEC between 260 and 540 mg/dl. Conclusions from this study included: 1) ethanol-related behavioral teratogenesis occurred without accompanying physical anomalies, 2) measurable teratogenic effects from weekly exposures occurred only at intoxicating doses of ethanol, and 3) early gestational exposure to ethanol appeared to be more damaging to cognitive function than later and considerably greater alcohol exposure.
Animals↗
A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis.
We report the case of a 3-year-old Japanese boy with phosphoglycerate kinase 1 (PGK1) deficiency (Online Mendelian Inheritance in Man entry 311800). The patient had anaemia and jaundice at birth, necessitating exchange transfusions for 2 d. After one red blood cell transfusion at age 2 months, his Hb level was 8-9 g/dl, his reticulocyte counts were 300-500 x 109/l, and his total bilirubin level was 25.65-42.75 micro mol/l. The patient suffered two episodes of respiratory infection-associated haemolytic crisis and rhabdomyolysis during early infancy. At age 3.0 years, his developmental milestones (developmental quotients measured using the Tsumori-Inage methods) score was 49% (normal 74-131%), and his height was below average by -2.0 standard deviations. The diagnosis of PGK1 deficiency was made based on his remarkably low (< 10% of normal) erythrocyte PGK enzyme activity level and the identification of a novel missense (1060G-->C) PGK1 gene mutation. This mutation results in the Ala-353Pro amino acid substitution, which has been designated PGK Kyoto. The patient developed the full clinical symptoms of PGK1 deficiency including haemolytic anaemia, myopathy, central nervous system disorder and growth retardation, which is unusual.
Anemia, Hemolytic, Congenital↗
Trisomy 16 in a pigtailed macaque (M. nemestrina) with multiple anomalies and developmental delays.
A female pigtailed macaque (Macaca nemestrina) with unusual physical characteristics, deficits in learning and cognitive tasks, abnormal social behavior, and abnormal reflexes and motor control was followed from birth until 3 years of age and found to have trisomy 16, which is homologous to trisomy 13 in humans. The animal described here showed similar features to cases of trisomy 16 and 18 (human trisomy 13 and 18, respectively) reported previously in nonhuman primates. However, both significant differences and similarities were found when compared with the homologous human trisomy. Evaluation of the genetic components of these disorders as well as systematic developmental evaluation can lead to new insights into the genetic basis of speciation, development, and the underlying differences between humans and their closest living relatives.
Abnormalities, Multiple↗
The social construction of ecocultural niches: family accommodation of developmentally delayed children.
Family ecology theories mislead if they omit a social constructivist perspective. Parents construct an everyday routine to accommodate values and goals and resources and constraints of their proximal and distal ecology. Ecocultural theory suggests that (a) the most powerful ecocultural features affect everyday routines, (b) whether ecocultural features are positive or negative is influenced by family-constructed themes, (c) "sustainability" of everyday activities is a better predictor of child and family outcome than is measured "stimulation level," and (d) comparative studies should include families engaged in different kinds of social construction processes, not only samples matched on child age or developmental level.
Child↗
Counselling and supporting parents of children with developmental delay: a research evaluation.
This paper describes an evaluation study of a home-based, family-focussed counselling scheme providing support for English-speaking and Bangladeshi families of children with intellectual or multiple disabilities. Mothers and children in the intervention groups showed significant and positive changes compared to randomly allocated controls. The greatest benefits were derived by the more deprived and initially less well-supported Bangladeshi families. Mothers changed positively in ratings of perceived support and family functioning, and in their constructions of their child, themselves, husbands and family relationships. Although systematic teaching was not included, their children also showed improvements in developmental progress and behaviour problems.
Adolescent↗
Familial trigonocephaly associated with short stature and developmental delay.
A family in which three male members had premature closure of the metopic suture with other suture involvement was studied. Each of the affected persons also had short stature and delayed development. The pattern of inheritance appeared to be X-linked recessive; however, the possibility of autosomal dominant inheritance with low expressivity in women could not be excluded. Findings in these patients did not fit the previously described syndromes of craniostenosis.
Abnormalities, Multiple↗
A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.
We report a 16-year-old boy with multiple craniofacial and skeletal dysmorphic features including brachycephaly, acrocephaly, hypertelorism, wide palpebral fissures, broad nose, anteverted nares, broad columella, long and smooth philtrum, thin upper lip, macrostomia, carp-like mouth, micrognathia, low-set and posteriorly angulated ears with small and abnormal pinnae, a low posterior hairline, a short neck, hypoplastic and widely-spaced nipples, multiple severe pterygia, an umbilical hernia, metatarsus varus, low implantation of the halluces, and delayed motor and language development. An MRI of the head showed bilateral frontal pachygyria but no sign of heterotopia. The unique features of our patient suggest that he represents a new syndrome.
Abnormalities, Multiple↗