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Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.

We present male and female sibs of consanguineous parents with features including pili torti with unusual hair shaft electron microscopic (EM) findings, growth delay, developmental delay, and mild to moderate neurological abnormalities. The features of the cases presented here have not been noted in the previously reported clinical syndromes in which pili torti may be found.

Argininosuccinic Acid

Social skills and their correlates: preschoolers with developmental delays.

Fifteen preschool-age children with mild mental retardation (developmental delays) from mainstreamed schools were observed during two structured play sessions with matched peers without mental retardation. Children with developmental delays spent more time alone and when they played, showed less social play. The two groups did not differ on communication behaviors that maintained play or in negative affect; however, the children with developmental delays evidenced more disruptive entry, more regressive behaviors, and less positive affect. Families were interviewed concerning their attitudes about, and teaching of, social skills. For the children without mental retardation, level of social play was positively related to the family's teaching and the child's communication abilities. For the children with delays, social play related to developmental age and communication ability but not to family teaching.

Child, Preschool

[Study on the relationship between toddler temperament and development (second report)--the relationship between toddler temperament and developmental delay].

The purpose of this study is to clarify the relationship between toddler temperament and developmental delay, and to examine whether the result could be adapted to the health practice of mother and child. As the conceptual framework, we used A. J. Sameroff's transactional model. Questionnaires concerning toddler temperament, rearing environment and toddler development were sent to mothers whose children were scheduled to receive 1 year and 6 months child health examinations, and collected 306 responses. We assessed the developmental status of 41 children among the 306 by means of the Japanese edition of the Denver Developmental Screening Test. All 306 children were classified into either the developmental delayed group (30) or the normal group (275). The data analyses were conducted both quantitatively and qualitatively with the following results. Compared with normal children, developmentally delayed children showed these characteristics: (1) The temperamental category scores of adaptability and persistence were higher, indicating low adaptability and persistence. The prevalence of difficult child, slow to warm up (STWU) child and intermediate high child was relatively higher, with STWU child the highest. (2) The score for the rearing environment was lower. (3) There were cases where disagreement between a child's temperament and the mother's rearing behavior had an influence on the child's development. As a conclusion, these results indicate that a child's temperament must be considered developmental and child-rearing counseling in child health examinations.

Child, Preschool

Do parental questions and topic continuations elicit replies from developmentally delayed children? A sequential analysis.

This sequential analysis tested the relative extent to which several adult utterance types elicited conversational replies from developmentally delayed children. Eight developmentally delayed children in Brown's stages I and II and their primary parents were the subjects. Parent-child pairs were video and audio taped during their interactions with experimenter-provided toys in a lab setting. Transcripts of the interactions were coded for adult topic relatedness and obligation level and for child topic relatedness, length, and intelligibility. The results indicated that child replies of any length were elicited by adult topic continuations more than by any other adult utterance type. If a new topic was initiated, explicit prompts for child talk elicited child replies more than other adult utterance types. Multiword child replies were most likely to be elicited by explicit prompts that continued the child's topic. Child effects on the presence and effectiveness of adult conversational recruiting strategies were also tested.

Child

Treatment of elective mute behavior in two developmentally delayed children using modeling and contingency management.

Most classification schemes differentiate elective mutism from language problems seen in the developmentally delayed population. Two preschool developmentally delayed children were treated for speech reluctance using modeling and contingency management. Employing a multiple baseline across therapists, it was found that these treatment components were effective in increasing frequency of labeling behavior in both children. Results were maintained at follow-up. Generalization to new words and to spontaneous speech were also noted, and suggest that characteristics of elective mutism in this population may be similar to what is found in the general population.

Child Language

Comparison of constant time delay and the system of least prompts in teaching preschoolers with developmental delays.

This investigation compared the effectiveness and efficiency (sessions, errors, percent of errors, and minutes of instructional time through criterion) of constant time delay and the system of least prompts in teaching sight words to developmentally delayed preschoolers. Maintenance of sight words and generalization across instructors and materials were assessed. Also, students' acquisition of relationships between the target behavior and previously learned information were assessed. Two sessions were conducted each day in their classroom, one with each procedure. Two of the children were taught 16 words and one child learned 12 words. The parallel treatments design was used to assess the effectiveness of the two instructional strategies. The results indicated that (a) both strategies produced criterion level responding in the instructional setting, (b) constant time delay resulted in fewer total trials, errors, percent of errors, and minutes of direct instructional time through criterion than the system of least prompts, (c) both strategies produced criterion-level responding that maintained in 1-, 3- and 5-week follow-up probes, (d) both strategies resulted in generalization across instructors and materials, and (e) both strategies resulted in cross-modal generalization from expressive to receptive, receptive and expressive identification of the words' function or action, and matching the written word to a photograph of its referent.

Attention

Child developmental delay and socio-economic disadvantage in Australia: a longitudinal study.

Socio-economic inequalities in adult and child health in Australia have been an issue of national concern. While a large body of data has discussed adult health, there have been relatively few Australian reports of socio-economic inequalities in child health. This occurs in a context where there have been increases in the proportion of Australian children living in poverty and where there has been an increased interest in child developmental delay as an indicator of child health status. This paper reports the result of a longitudinal study of pregnancy outcomes and one indicator of child health, namely child developmental delay. Three indicators of socio-economic status (chronic socio-economic disadvantage, mother's education, family income) were used to predict child developmental delays observed some 5 1/2 years after the study commenced. Mothers who had the lowest socio-economic status (using any of the indicators) had substantially higher rates of children manifesting developmental delays.

Australia

Comparability of the Vineland Social Maturity Scale and the Vineland Adaptive Behavior Scale--survey form with infants evaluated for developmental delay.

The Vineland Social Maturity Scale and its revision, the Vineland Adaptive Behavior Scale-Survey Form, were evaluated with infants referred for suspected developmental delay. Since the latter is being used more often by psychologists in evaluation and placement of children in the age group of birth to two years, comparative studies must ensure appropriate placement of children observed to have developmental delays. The present study indicated significantly higher over-all adaptive functioning on the Vineland Adaptive Behavior Scale-Survey Form for 33 black and 11 white infants of mean age 12 mo. than on the original Vineland scales. Substituting the Survey Form for the original Vineland scales when evaluating developmentally delayed infants is questionable. These results are also noteworthy in that children whose Vineland Social Maturity scaled scores make them eligible for special services would be excluded if the revised form were used in the evaluation process.

Child, Preschool

In utero PCB/PCDF exposure: relation of developmental delay to dysmorphology and dose.

In 1979, there was an outbreak of food poisoning in central Taiwan due to cooking oil contaminated with polychlorinated biphenyls and their thermal degradation products. Starting in 1985, we studied 128 children born to exposed women after the oil was removed from the market; the exposure of these children was transplacental or through breast milk. We also studied matched controls. The exposed children exhibited developmental delays as measured by parental report, by neurologic examination, and by standard cognitive tests; delay was seen at all ages and persisted over time. Delay was greater in children who were smaller in size and in children who had exhibited neonatal symptoms of intoxication. Children with a history of nail deformity also were delayed. However, there was little relationship between other physical findings or measures of maternal exposure and developmental delay. There was some indication that the child's prenatal exposure was more important to developmental delay than was exposure through breast milk.

Abnormalities, Drug-Induced

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

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

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

[Developmental delay of school beginners with resulting partial performance limitations].

There is an incomplete degree of school maturity in approximately ten per cent of our school beginners because of developmental delays which may have genetic or psychosocial causes or may be caused by an infantile cerebral dysfunction. A consequence of these developmental delays are the partial disturbances of performance frequently resulting in failure at school. An early registration of the partial disturbances of performance is important for the prognosis of these children in order to prevent the development of secondary unbalanced behaviour. Moreover an after maturation of the damaged cerebral centres can be reached by early support.

Achievement

Correlates of maternal directiveness with children who are developmentally delayed.

Interactions between 25 mothers and their children with developmental delays were correlated to determine the relationships between maternal directiveness and a) maternal behavior regarded as developmentally facilitative, b) maternal intrusiveness, and c) child developmental competence and behavioral engagement. The findings, many of which challenge common conceptions about the nature and role of maternal directiveness, are discussed in relation to these conceptions and to the potential role of directiveness in the development of children with handicaps.

Adult

The Miller Assessment for Preschoolers: clinical use with children with developmental delays.

In this pilot study, we investigated the clinical use of the Miller Assessment for Preschoolers (MAP) (Miller, 1982) with a sample of children with suspected or confirmed developmental delays. A retrospective chart audit was performed for 95 subjects, 30 girls and 65 boys, 34 to 68 months of age. Clinically related diagnoses were classified into six medical/developmental groups and a no-diagnosis group. When an analysis of variance was used to compare the six medical/developmental groups with the no-diagnosis group, some of the MAP score patterns differed significantly (p less than .01). These score patterns provide preliminary evidence for the MAP's effectiveness in screening children with developmental delays.

Analysis of Variance

Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome.

A 4-year-old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth. She was the product of first-cousin consanguineous marriage. She had striking facies with frontal prominence, deep-set eyes, depressed nasal bridge, beaked nose, long philtrum with thin upper lip, micrognathia, large floppy ears, bifid uvula, and growth retardation with SD score less than -2 for height, weight and head circumference. We believe these features which include congenital hypoparathyroidism, severe growth failure and developmental delay in the absence of chromosomal abnormality represent a newly described genetically determined syndrome.

Abnormalities, Multiple

[Developmental delay in students starting school and possibilities for detection in preschool screening by the public health office].

There is an incomplete degree of school maturity in approximately ten per cent of our school beginners because of developmental delays which may have genetic or psychosocial causes or may be caused by an infantile cerebral dysfunction. A consequence of these developmental delays are the partial disturbances of performance frequently resulting in failure at school. An early registration of the partial disturbances of performance for example at pre-school medical check-ups is important for the prognosis of these children. The examination scheme of the Public Health office Schweinfurt is presented.

Attention Deficit Disorder with Hyperactivity

Enhancing the coping skills of mothers with developmentally delayed children.

Recent studies have shown that mothers of developmentally delayed children are at risk for depression. During weekly psychoeducational group meetings, Roy's adaptation model was used to identify the focal, contextual, and residual stimuli that contributed to the mothers' depression. Nursing interventions that encouraged adaptation in the four modes were implemented by group facilitators providing parent education and emotional support. Implications for nurses in a variety of settings are given.

Adaptation, Psychological