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Results for “developmental delay”

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PubMed1987

Type 1 fiber size disproportion: morphometric data from 37 children with myopathic, neuropathic, or idiopathic hypotonia.

We reviewed clinical data and quantitative muscle biopsy data from infants with hypotonia and developmental delay who had relatively small type 1 muscle fibers (fiber size disproportion; FSD). Study material consisted of 49 thigh muscle specimens from 37 patients, 1 week to 11.5 years old, who had FSD diagnosed between 1971 and 1985. Beyond 2 months of age, FSD was greater than 12% in at least one biopsy from all but 2 patients. In sequential specimens obtained from 11 patients, we observed that FSD may resolve, persist unchanged, or intensify with age. In 6 patients, hypotonia regressed, and development tended to normalize during 1-4 years of observation; FSD resolved in 4 cases, but numerical predominance of type 1 fibers persisted in 3 of them. In a small group designated congenital myopathy with FSD only, the disproportion in fiber diameter persisted unchanged or intensified with time and was more severe after the age of 6 months than in the other subgroups. We classified FSD as definitely or probably myopathic (15 cases), definitely or probably neuropathic (17 cases), and benign maturation delay (5 cases). Six of 17 neuropathic cases had a history of perinatal asphyxia. In most cases, type 1 fibers were absolutely small and type 2 fibers were hypertrophied, independent of classification. FSD is a manifestation of muscle maturation delay of variable etiology. The prevalence of nervous system disorders in our series suggests that neuronal dysfunction plays an important role in pathogenesis. We were unable to define morphometric criteria that consistently distinguished congenital myopathy with FSD from definable neuropathic FSD or from benign maturation delay.

Asphyxia Neonatorum↗
PubMed1993

[Early severe malnutrition and psychomotor development. Effects of a rehabilitation program].

This study evaluates the psychomotor development of 228 undernourished infants submitted to an integral rehabilitation program in Nutritional Recovery Centers. At admission these children present a moderate retardation of their developmental quotient: mean 0.59 +/- 0.17, improving significantly to mean 0.79 +/- 0.4 (p < 0.001) after an average period of 178.2 +/- 63.9 days of intervention. As regards areas of development, rehabilitation only demonstrates a significant change in coordination and language, not so in the social and motor areas. Those children presenting the most severe developmental delays are also those who obtain the greater benefits from this integral rehabilitation program.

Developmental Disabilities↗
PubMed2001

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

This study investigated the phenotypic manifestations of interstitial duplications of chromosome 15 that involve the Prader-Willi/Angelman syndrome critical region (PWACR). Twenty-one affected individuals from six families were evaluated in detail, using standardized and semi-standardized measures of intelligence, psychopathology, and physical anomalies. Special attention was placed on determining the prevalence of autism spectrum disorders as well as the relationship between the parental origin of the duplication and the phenotypic effects. Assessments of the affected individuals were compared with evaluations of the unaffected relatives from the same families. Results indicated that duplications in the region were associated with variable degrees of intellectual impairments and motor coordination problems. Four of the subjects received a diagnosis of pervasive developmental disorder. Three of these cases were probands and only one met criteria for classic autism. There was very little evidence of the duplication cosegregating with autism spectrum disorder diagnosis. Paternally inherited duplications were significantly less likely to give rise to phenotypic effects. The findings indicate that duplications in the PWACR give rise to developmental delay but not necessarily autism spectrum disorders. They also suggest that phenotypic expression is dependent on the parental origin of the duplication and implicate maternally active genes in the pathogenesis of the developmental impairments. Further research will be required to clarify the range and basis of the phenotypic manifestations.

Adult↗
PubMed2002

Developmental abnormalities in mouse embryos tetrasomic for chromosome 11: apparent similarity to embryos functionally disomic for the x chromosome.

Adopting a mating system involving two different Robertsonian translocations with monobrachial homology, we studied the early development of mouse embryos trisomic or tetrasomic for chromosome 11. A developmental delay of 12-24 hours was evident in trisomic embryos at embryonic day (E)7.5, whereas tetrasomic embryos apparently had stopped growth by E6.5 without formation of extraembryonic structures. This extremely severe developmental abnormality found in tetrasomic embryos is similar to that reported in embryos having two active X chromosomes in extraembryonic cell lineages. Autosomal tetrasomy, but not autosomal trisomy, can lead to such early developmental errors. Thus, a reasonable inference would be that the X chromosome is twice as active as the autosome. Probably, the X chromosome became upregulated in response to the evolutionary necessity of minimizing haplo-insufficiency brought about by miniaturization of the Y chromosome.

Aneuploidy↗
PubMedDate not supplied

Development and temperament in very low birth weight infants--the second year.

This article reports findings from the second year of a two-year longitudinal study designed to assess the VLBW infant in the areas of temperament, development, and the home environment. Data were obtained from 20 of the original 26 infants who participated in the study. During a home visit the Denver Developmental Screening Test (DDST), the Toddler Temperament Questionnaire (TTQ), and the Home Observation Measurement for Evaluation Inventory (HOME) were completed. Twenty percent of the toddlers were at-risk for developmental delay when assessed at the corrected gestational age. This compares to 42% who were deemed to be at-risk during the first year of life. No relationship was found between developmental-risk status and the quality of the home environment. The VLBW toddlers' temperaments were not significantly different from the standardization population. However, there were fewer easy toddlers than would be expected. During the second year the percentage of difficult children decreased from 38% to 10%. The VLBW toddler's behavioral style was characterized by arrhythmicity and low persistence. There was a moderate correlation between home environment and the toddler's activity level. High activity was negatively correlated with maternal involvement and provision of appropriate play things. The families of the 20 toddlers scored on the upper 25th percentile on the HOME Inventory. The high quality of the childrearing environment was stable over the two years.

Child Behavior↗
PubMed1994

Familial Sotos syndrome: longitudinal study of two additional cases.

We describe two siblings with Sotos syndrome, probably inherited from their father. The diagnosis was made early in both children, who presented psychomotor delay from early on as well as a strikingly similar phenotype (macrocrania, coarse face, accelerated growth). The prolonged follow-up of both children shows severe but non progressive motor and language developmental delay, followed by improvement with age in the girl. This improvement is also expected for the boy, who shows identical development. The expressive language delay present in both children may be explained by oral apraxia rather than mental handicap. The progressive motor and mental improvement, which can occasionally reach normal level in adults, and the tendency toward phenotypic normalization could explain the difficulty in making a definite diagnosis in adults and thus in defining the pattern of inheritance.

Adult↗
PubMed1994

Chronic overeating without obesity in children with developmental disabilities: description of a new syndrome.

Reported excessive eating was examined in children referred for developmental delay to our multidisciplinary diagnostic center and cause hypotheses were generated. Thirteen children were evaluated prospectively using a nutrition assessment, The Eating Behavior Questionnaire, the Achenbach Child Behavior Profile, and their multidisciplinary developmental evaluation. The children ate excessively but were not obese. Commonalities included being in foster care, prenatal drug exposure, and abnormally withdrawn and/or aggressive behavior. Nonobese hyperphagia appears to require emotional and behavioral assessment and dietary management. Hypotheses include prenatal drug exposure and a possible causal association with emotional and behavioral problems.

Adolescent↗
PubMed2001

Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?

We report a pattern of malformation affecting five of seven siblings born to unaffected Afghani parents who are first cousins. Their first two children died during infancy of cyanotic congenital heart defects. Two living male siblings have tetralogy of Fallot, developmental delay principally affecting language skills, and short palpebral fissures or midfacial hypoplasia. Another male has communicating hydrocephalus and hypertelorism. The striking number of siblings with tetralogy of Fallot, or another cyanotic congenital heart defect, and the parental consanguinity, suggests autosomal recessive inheritance in this family. While several other families have been identified with apparent recessive inheritance of tetralogy of Fallot, the associated malformations in our family suggest a unique, and previously unreported, malformation pattern.

Adolescent↗
PubMed1989

3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome).

We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmorphism (evoking cleidocranial dysplasia), relative macroencephaly with cerebellar vermis hypoplasia, hypertelorism, skeletal abnormalities (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay. Most of these features have been reported previously by Ritscher, Schinzel et al. in two sibs, who suffered more severe cerebellar malformations (Dandy-Walker cyst or vermis aplasia). We propose 3C syndrome as an easy acronym for this Cranio-Cerebello-Cardiac dysplasia.

Abnormalities, Multiple↗
PubMedDate not supplied

[Enuresis--symptom of delayed micturition development or an obstructive urinary tract anomaly?].

In a review of the literature the question of origin of enuresis was studied. Most authors agree that diminished bladder capacity and involuntary detrusor contractions are the main cause of primary enuresis. Urodynamic investigations are necessary to differentiate developmental delay in bladder function form true anatomic infravesical obstruction. Therapeutic measures are successful in 2/3 of enuretics. Enuresis has a great tendency of spontaneous disappearance around 15% per year.

Adolescent↗
PubMed1999

Developmental progress of children with congenital heart defects requiring open heart surgery.

Recent advances for infants requiring early open heart surgery have resulted in a dramatic decline in mortality and severe morbidity. The developmental progress of these new survivors is currently being defined. Causes contributing to brain injury are multifactorial, and may involve preoperative, intraoperative, and postoperative events. Before surgery, these children often exhibit hypotonia, poor state regulation, microcephaly, and developmental delays. These findings are particularly prevalent in newborns. In the acute postoperative period, neurodevelopmental deficits continue to manifest clinically. Long-term follow-up studies indicate that subtle neurological deficits and global developmental lags are characteristic of this population. Overall, severe neurological sequelae are uncommon; however, mild to moderate developmental disabilities are prevalent. Functional limitations, academic achievements, and health-related quality of life are areas that deserve further attention.

Achievement↗
PubMed2026

[A case of bilateral open-lip schizencephaly with West syndrome due to variant of PAFAH1B1 gene and literature review].

OBJECTIVE: To report the clinical manifestations, genetic features, diagnosis, treatment, and prognosis of a child with bilateral open-lip schizencephaly complicated by West syndrome due to a variant of PAFAH1B1 gene, and review the relevant literature. METHODS: Clinical data of a 4-month-old boy were retrospectively analyzed, and 35 previously reported cases were systematically reviewed. This study was approved by the Medical Ethics Committee of Gansu Provincial People's Hospital (Ethics No.: 2025-871). RESULTS: The 4-month-old boy presented with clustered flexor spasms, hypsarrhythmia on electroencephalography, and developmental regression. Brain magnetic resonance imaging revealed bilateral pachygyria, schizencephaly, and dysgenesis of the corpus callosum. Trio whole-exome sequencing identified a de novo heterozygous NM_000430.4: c.703_704delAG (p.Glu235Metfs*20) frameshift variant in the PAFAH1B1 gene. Sanger sequencing confirmed that neither parent carried this variant. Based on the guidelines from American College of Medical Genetics and Genomics (ACMG), the variant has met the criteria for PVS1+PS2_Moderate+PM2_Supporting, and was classified as pathogenic. After treatment with adrenocorticotropic hormone combined with vigabatrin and other antiseizure medications, the epileptic spasms were controlled and the electroencephalographic abnormalities had improved. However, global developmental delay persisted at the 12-month follow-up. Analysis of the present case and 35 previously reported cases showed that PAFAH1B1-related phenotypes were highly consistent, mainly including infantile spasms (28/36), developmental delay/intellectual disability (29/36), and abnormal brain MRI findings (30/36), predominantly cortical malformations. The reported variant types included deletions, frameshift variants, nonsense variants, missense variants, and splice-site variants. CONCLUSION: PAFAH1B1 gene variants are an important cause for cortical malformations, including schizencephaly, and may lead to secondary West syndrome. This study has systematically summarized the genotypic and phenotypic features of bilateral open-lip schizencephaly complicated by West syndrome associated with a frameshift variant of the PAFAH1B1 gene. For infants with epileptic spasms or early-onset epilepsy accompanied by structural brain abnormalities, early genetic evaluation should be performed, and antiseizure treatment should be integrated with neurodevelopmental rehabilitation to facilitate long-term management.

Humans↗
PubMed1992

The school nurse's role: early intervention with preschool children.

With the advent of PL99-457, preschoolers are increasingly appearing in the educational system. The school nurse must have an understanding of the basis for early entrance of these children and methods by which they obtain entry. This article focuses on the diagnosis of developmental delay in preschool children and identifies some of the specific roles and functions involving the school nurse.

Child, Preschool↗
PubMed1990

An introduction to using children's drawings as an assessment tool.

This article is intended to familiarize the ambulatory care provider with possible uses of children's drawings as assessment tools. Drawings can be a useful adjunct in detecting perceptual-motor difficulties and developmental delay, and can provide clues to self-image and family dynamics. Piaget's theory of cognitive development provides a framework to evaluate the child's intellectual development as reflected in drawings. The developmental scales of Koppitz are presented as a practical screening tool. The Koppitz scales include both developmental norms and items that might indicate emotional problems. Observing the child's drawing of the family provides clues to family dynamics. Becoming highly skilled in the evaluation of children's drawings requires a familiarity with neurophysiology, education, psychology, and psychoanalytic and developmental theory, along with intuition and practice. This article presents an introduction to evaluating children's drawings.

Ambulatory Care↗
PubMedDate not supplied

Metaphyseal dysostosis and congenital nystagmus in a male infant with the fragile X syndrome.

A 14-month-old male with congenital nystagmus, sparse scalp hair, protuberant ears, developmental delay, and radiologic manifestations of mild metaphyseal dysostosis was coincidentally found to have the fra(X) chromosome in 67% of analyzed metaphases. This observation underscores the need for fra(X) analyses in children with developmental deficit of unknown cause.

Developmental Disabilities↗
PubMed1997

Color pattern formation on the wing of the butterfly Pieris rapae. 1. Cautery induced alteration of scale color and delay of arrangement formation.

Experimental approaches to color pattern formation of lepidopteran insects have been made exclusively by analyzing pattern alterations in adult wings induced by operations. We microcauterized the presumptive black region of the dorsal forewing of the butterfly Pieris rapae and analyzed not only the resultant color pattern in the adult wing but also the cell behavior in the pupal wing epidermis around the injury. Cautery induced color alterations were as follows: (i) cautery up to 49.5 h after pupation resulted in white regions appearing within the black region while later cauteries induced larger white regions; (ii) cautery between 50 and 59.5 h resulted in the white regions induced by the cauteries being dramatically decreased; (iii) cautery after 60 h resulted in white regions that had almost disappeared. The examination of the cell behavior in the pupal wing epidermis after cauteries showed that the row formation of scale precursor cells was delayed. This delayed area varied with the time of cautery, in the same manner as that in the induced white area in the adult wing ((i)-(iii) above). The relationship between scale color alteration and the developmental delay of the scale row formation is discussed.

Animals↗
PubMed1992

Participation by pediatricians in early intervention: impetus from Public Law 99-457.

Part H of the Individuals with Disabilities Education Act (originally enacted as Public Law 99-457) requires that participating states phase in a system of early intervention services by 1993. By recognizing the importance of good health in the development of infants and toddlers, Congress acknowledged the key role of medical care providers in a comprehensive program for young children with or at risk for developmental delay or dysfunction. National and state surveys of pediatricians suggest limited but growing awareness of this legislation and uncertainty about how they might participate effectively. A chief concern relates to mechanisms of payment for developmental screening and assessment as well as time-demands for participation in interdisciplinary team activities. The American Academy of Pediatrics and its state chapters are responding to requests for information with educational seminars and print materials. Pediatricians can enhance the quality of community support services for children with special needs by participating in planning efforts and by coordinating health care with other aspects of early intervention. Other professionals and parents are looking to pediatricians for leadership and willing participation in the implementation of PL 99-457.

Child↗
PubMedDate not supplied

Imagery deficits in nonverbal learning disabilities.

This study reports the observations gathered from 11 children referred to consulting services because of learning difficulties at school and diagnosed with nonverbal learning disabilities (NVLD). These children had an average verbal IQ, but a WISC-R performance IQ lower than the verbal IQ by at least 15 points and experienced difficulties especially in mathematics and drawing. The children completed a battery of four tasks requiring visuospatial working memory and visual imagery: a memory task composed of pictures and their positions (Pictures task), a task that required them to memorize the positions filled in a matrix (Passive Matrix task), a task that required them to imagine a pathway along a matrix (Active Matrix task) and a task that required them to learn groups made up of three words, using a visual interactive imagery strategy (TV task). In comparison to a control group of 49 children, children with NVLD scored lower in all the tasks, showing deficits in the use of visuospatial working memory and visual imagery. By contrasting subgroups of children of different ages in the control group, it was possible to show that some tasks did not show a clear developmental trend. Thus the deficits shown by the children with NVLD cannot simply be attributed to a developmental delay of these children, but seem to reflect a more severe disability.

Adolescent↗