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PubMed1993

Developmental needs of infants and toddlers who require lengthy hospitalization.

OBJECTIVES: To describe demographic and medical characteristics of a sample of children younger than age 3 years who required lengthy hospitalization in a tertiary care hospital. To determine the proportion of children in the sample with biologic handicaps, developmental delays, or risk factors for developmental disorders who met eligibility criteria for early intervention services based on federal law PL 99-457 and state regulations. DESIGN: Survey of medical records. SETTING: Large, urban, tertiary care children's hospital. PATIENTS: All 135 children younger than age 3 years hospitalized for more than 30 days during 1990 and 1991. INTERVENTIONS: None. MAIN RESULTS: The most prevalent cause of lengthy hospitalization was congenital anomaly followed by chronic and perinatal conditions; 38 patients (28%) required technology assistance at the time of discharge. Seventy-three children (54%) were eligible for early intervention services based on the presence of a biologic handicap or developmental delay. An additional 48 patients (36%) were eligible for developmental screening and periodic developmental monitoring on the basis of medical and social risk factors. CONCLUSIONS: Because of the high prevalence of developmental disorders and risk factors in infants and toddlers requiring lengthy hospitalizations, hospital-wide systems for identification, developmental assessment, and early intervention services should be designed and implemented.

Child, Hospitalized↗

PubMed2000

"The frog ate the bug and made his mouth sad": narrative competence in children with autism.

This study compares the narrative abilities of 13 children with autism, 13 children with developmental delays, and 13 typically developing children matched on language ability. Although groups did not differ in their use of causal language or internal state terms, children with autism and children with developmental delays were less likely than typical children to identify the causes of characters' internal states. Rather, they tended simply to label emotions and explain actions. Children with autism and children with developmental delays also relied on a more restricted range of evaluative devices, which both convey point of view and maintain listener involvement. In addition, the narrative abilities of children with autism were linked to performance on measures of theory of mind and an index of conversational competence, whereas this was not the case among children with developmental delays. Findings are discussed in relation to the social, cognitive, and emotional underpinnings and consequences of narrative activity.

Autistic Disorder↗

PubMed2003

Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency.

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare disorder characterized by an inborn error of the catabolism of the inhibitory neurotransmitter GABA. Because of the deficiency of SSADH, the final enzyme of the GABA degradation pathway, the substrate, succinic semialdehyde, is shunted towards production of 4-hydroxybutyric acid (gamma-hydroxybutyric acid). Elevations of gamma-hydroxybutyric acid can be detected in the physiologic fluids of patients with SSADH deficiency, and forms the mainstay of diagnosis. The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures. Although the metabolic pathway has been established, it is not known whether insufficient GABA and/or excess gamma-hydroxybutyric acid contribute to the disease phenotype. Pharmacological therapy in patients with this disorder has been limited to vigabatrin, an anticonvulsant that blocks GABA transaminase. This review will discuss therapeutic options in SSADH deficiency, on the basis of patient experience, and preliminary work using a murine model. Finally, a discussion of adjunctive therapies will be included.

Aldehyde Oxidoreductases↗

PubMed2003

Delay in motor development of twins in Africa: a prospective cohort study.

Twins are prone to developmental delay due to prematurity and low birthweight. However it is unknown if twinning is an independent risk factor for developmental delay. The objective of this study was to compare the attainment of a set of gross motor milestones in a cohort of twins and singletons in The Gambia. Eighty-four pairs of twins and 72 singletons were enrolled at birth and followed up until 18 months of age. The mean age at achieving milestones was higher in twins for each development outcome and the difference between twins and singletons was significant after adjustment for confounders for maintaining head, sitting without support and walking. In twins, we found a highly significant correlation within pairs for most milestones. When monozygotic and dizygotic twins were compared, a significant heritability was observed for crawling, sitting, standing and walking, with over 90% of population variance observed due to genetic factors rather than environmental factors. There was little evidence for a genetic contribution towards very early milestones. In conclusion, our data suggest that twinning is an independent risk factor for developmental delay in early life in The Gambia, and that genetic factors contribute strongly to certain motor development outcomes.

Africa↗

PubMed2005

Corrected head circumference centiles as a possible predictor of developmental performance in high-risk neonatal intensive care unit survivors.

The aim of this study was to evaluate the predictive value of corrected head circumference (HC) centiles at 2 years of age with respect to developmental performance in a series of high-risk neonatal intensive care unit (NICU) survivors with microcephaly. The study used a retrospective review of the clinical files of children seen in a clinic devoted to the follow-up of all high-risk survivors of a hospital's level III NICU. All children with microcephaly (occipital-frontal circumference below the 2nd centile for sex) at 2 years of age were identified. The HC obtained at 2 years was corrected to the ages for which the absolute HC corresponded to either the 50th or 2nd centile for the child's sex. Of 312 high-risk patients followed, 38 (12.2%) were microcephalic. Fifteen performed below the 50th age-corrected HC centile (severe developmental delay), 12 performed between the 50th and 2nd age-corrected HC centile (moderate developmental delay), and 11 performed above the 2nd age-corrected HC centile (mild developmental delay). The absolute value of HC measurement was not a predictor of developmental performance. Of all clinical factors evaluated, only coexisting epilepsy was found to be a significant predictor of less than the 50th age-corrected HC centile developmental performance (chi2=6.134, p=0.01). We conclude that in a high-risk population, the presence of microcephaly implies developmental impairment, though neither the absolute HC measurement nor the corrected HC centile is predictive. Coexisting epilepsy in this context appears to worsen developmental outcome.

Cephalometry↗

PubMed1986

Joint attention and language in autism and developmental language delay.

The relationship of gestural joint attention behaviors and the development of effective communication skills in autism and developmental language delay (DLD) was investigated. Autistic and DLD children matched for MA and MLU were compared on measures of gestural joint attention behavior, personal pronoun use, and spontaneous communicative behavior. DLD children responded correctly to joint attention interactions more often than autistic children, and their spontaneous gestural behavior was more communicative and developmentally advanced. Correct production of "I/you" pronouns was related to number of spontaneous initiations for autistic but not for DLD children. Measures of spontaneous joint attention behaviors were in general not related to MA, CA, or MLU for either group. DLD children's performance suggests no special impairment of joint attention skills, whereas autistic children's performance suggests a joint attention deficit in addition to a language deficit.

Attention↗

PubMed2003

Developmental surveillance of infants and young children in pediatric primary care.

PURPOSE OF REVIEW: This article reviews the importance of appropriate developmental surveillance in early childhood, what is known about its effectiveness in current pediatric practice, and ways in which its delivery can be improved to optimize child outcomes. RECENT FINDINGS: Many infants and young children with developmental delays or risk factors for poor developmental outcomes are not identified by pediatric practitioners in a timely manner. When they are identified, they are often not referred to appropriate early intervention services or early childhood development programs. They are therefore denied the opportunity to benefit from programs documented to have long-lasting benefits for children. Structuring developmental screening around the use of validated parent questionnaires improves the rates at which children with developmental needs are appropriately identified. At the same time, lowering thresholds for referral improves the rates at which children with identified needs receive appropriate services. SUMMARY: Pediatric practitioners are uniquely positioned to improve children's developmental outcomes through early identification and referral of children with developmental delays or risk factors for poor developmental outcomes. Unfortunately, inappropriate screening practices, high thresholds for referral, misplaced concerns about causing parental anxiety, and unfamiliarity with local resources all diminish the effectiveness with which many practitioners conduct developmental surveillance. Recent studies show that small changes in screening and referral practices have the potential to greatly improve the effectiveness of developmental surveillance. This, in turn, has the potential to improve lifelong outcomes for children.

Child Health Services↗

PubMed1994

The outcome of fetal ventriculomegaly.

Over a 5 year period 38 cases of fetal ventriculomegaly were diagnosed at Queen's Medical Centre, Nottingham. There were 12 cases of spina bifida and all patients opted for a termination of pregnancy. There were 15 cases of isolated ventriculomegaly comprising seven cases of aqueduct stenosis, four abnormalities of the corpus callosum, one cavum septum pellucidum cyst, one case of porencephaly and two cases of mild lateral ventricular dilatation. The fetuses in this group had a relatively good outcome with five babies showing normal development, three with mild development delay and one with moderate developmental delay. There was one stillbirth and five patients opted for a termination of pregnancy. Associated abnormalities were seen in seven cases and these carried a poor prognosis with one fetus stillborn, one neonatal death, and three patients opted for a termination of pregnancy. Two babies were liveborn, one has severe developmental delay and the other one is normal. The four remaining cases included two Dandy Walker syndrome, one brain tumour and one case of subdural haemorrhage. There were three terminations of pregnancy and one stillbirth in this group. The outcome of fetal ventriculomegaly depends on the presence of associated abnormalities which carry a poor prognosis. It also depends on the timing of the diagnosis as most patients will opt for a termination of pregnancy if the diagnosis is made before 24 weeks gestation. A review of the literature reveals that, excluding terminations, fetuses with isolated ventriculomegaly have an 80% chance of survival and a 50% chance of normal development.

Abnormalities, Multiple↗

PubMed1987

The behavioral effects of perinatal methimazole administration in Swiss Webster mice.

Methimazole was tested for use as a positive control agent in behavioral studies of mice. Continuous administration of the antithyroid agent via drinking water (0.1 mg/ml) from Day 16 of pregnancy through Day 10 postpartum produced developmental delays in mice offspring. Ten methimazole and 12 untreated litters were studied. Developmental milestones were unaltered; i.e., time of pinna detachment, incisor eruption, eye opening, vaginal patency, and testicular descent were not different between groups. Mean body weights of methimazole offspring were consistently reduced, but significant differences were isolated to a few days in the preweaning period and a few weeks during the postweaning period. There was no enduring effect. All preweaning tests showed some significant treatment-related changes; methimazole pups were developmentally delayed. Surface righting time was increased while time pivoting and the number of quadrants traveled were decreased in methimazole pups. Negative geotaxis showed significant treatment-related increases in the time to orient 180 degrees uphill, the percentage of pups orienting 180 degrees uphill, and the percentage of pups orienting less than 180 degrees. Ontogeny of swimming ability also showed significant delays. The only postweaning test evaluated, time on a rotating rod, showed no treatment-related effects. Brain weights Postnatal Day (PND) 120 were not different between groups. In this study, methimazole produced developmental delays in mice that were detectable by behavioral tests. Thus, methimazole has potential as a positive control agent for mice, not only to validate preweaning test sensitivity, but also to validate a laboratory's ability to perform preweaning behavioral studies.

Aging↗

PubMed1994

Mosaic tetrasomy 8p in two patients: clinical data and review of the literature.

We report on 2 girls with mosaic tetrasomy 8p. Patient 1 showed the extra iso 8p chromosome in 20% of cultured lymphocytes and 18% of cultured fibroblasts [46,XX/47,XX,+i(8p)]. She presented with growth retardation, mild facial alterations, and motor developmental delay. Patient 2 presented with developmental delay, hypotonia, and slight facial alterations; she had the extra iso 8p chromosome in 94% of cultured peripheral lymphocytes. The patients are compared to the 6 previously reported cases. In our experience, the presently reported patients clinically resemble children with inv dup(8)(p21-p22) and patients with mosaic trisomy 8.

Abnormalities, Multiple↗

PubMed2004

Early childhood development in deprived urban settlements.

Poverty, the root cause of the existence of slums or settlement colonies in urban areas has a great impact on almost all aspects of life of the urban poor, especially the all-round development of children. Examples from countries, across the globe provide evidence of improved early child development, made possible through integrated slum improvement programs, are few in numbers. The observed 2.5% prevalence of developmental delay in the less than 2 year olds of deprived urban settlements, the presence of risk factors for developmental delay like low birth weight, birth asphyxia, coupled with poor environment of home and alternate child care services, highlights the need for simple cost effective community model for promoting early child development. This review on early child development focuses on the developmental status of children in the deprived urban settlements, who are yet to be on the priority list of Governments and international agencies working for the welfare of children, the contributory nature-nurture factors and replicable working models like infant stimulation, early detection of developmental delay in infancy itself, developmental screening of toddlers, skill assessment for preschool children, school readiness programs, identification of mental sub-normality and primary education enhancement program for primary school children. Further, the review probes feasible intervention strategies through community owned early child care and development facilities, utilizing existing programs like ICDS, Urban Basic Services and by initiating services like Development Friendly Well Baby Clinics, Community Extension services, Child Development Referral Units at district hospitals and involving trained manpower like anganwadi/creche workers, public health nurses and developmental therapists. With the decentralization process the local self-government at municipalities and city corporations are financially equipped to be the prime movers to initiate, monitor and promote early child development programs, to emerge as a part and parcel of community owned sustainable development process.

Child↗

PubMed2001

Tandem translocation of chromosomes 22 and 15 with two preserved satellite stalk regions and deletion 22q13.3-qter.

We describe here a case of a tandem 22/15 translocation with deletion of the 22q13.3-qter region and retention of the NOR of chromosome 15. A 2(1/2)-year-old Korean girl was referred for chromosome analysis after a clinical evaluation for developmental delay. Physical examination revealed hypotonia, developmental delay, delay of gross motor milestones and speech delay. No dysmorphic features of face, hands or feet were evident in the patient. G-banded peripheral blood lymphocyte chromosomes showed a tandem translocation between chromosomes 22 and 15, with the satellite stalks of chromosome 15 apparently being retained. All-telomere FISH analysis using a TTAGGG repeat probe showed absent signals at the junction of the translocation. Sequential G-banding and FISH analysis using a beta satellite probe showed positive signals close to the junction of the translocation, an indication that the short arms of the chromosome 15 involved in the translocation are retained. FISH with a probe for arylsulfatase, mapped to 22q13.3 region, was negative on the translocation chromosome. Therefore, the 22q13.3 region is deleted.

Abnormalities, Multiple↗

PubMed2026

Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients.

Glycosylphosphatidylinositol-anchored proteins (GPI-APs) are essential for neuronal development, synaptic organization and signaling. Defects in GPI-anchor biosynthesis or remodeling cause rare neurodevelopmental disorders, including post-GPI attachment to proteins 1 (PGAP1) deficiency. PGAP1 encodes an inositol deacylase required for GPI-anchor remodeling and appropriate trafficking and membrane localization of GPI-APs. Loss of PGAP1 function disrupts GPI-AP processing, but the clinical spectrum remains incompletely defined because reported cohorts are small. We report 15 individuals with biallelic PGAP1 variants from 11 unrelated families identified through international collaboration. Clinical information was collected using a standardized phenotyping questionnaire and review of available clinical records. The most frequently recorded features were developmental delay or intellectual disability, motor developmental delay, speech impairment, facial dysmorphism, hypotonia and seizures. Independent walking was clearly recorded in a minority of individuals, while feeding, ophthalmological, musculoskeletal and neuroimaging findings were recorded in subsets of the cohort. Clinical investigations were performed as part of routine care and were not uniform across sites. Accordingly, source-dependent assessments including MRI, EEG, EMG/NCS, formal ophthalmology, hearing assessment, systemic imaging, IQ/DQ testing, MRC scoring and anthropometric Z-scores are reported descriptively or using available-data denominators. Spasticity, hypertonia or possible peripheral nerve involvement was recorded in some clinical summaries; however, electrophysiological confirmation was not uniformly available, and confirmed peripheral neuropathy was not analyzed as a cohort-level prevalence outcome. Functional studies in selected patient-derived cells or model systems demonstrated PI-PLC resistance of GPI-APs, supporting impaired GPI-anchor remodeling. These findings expand the genotypic and recorded phenotypic spectrum of PGAP1 deficiency.

Journal Article↗

PubMedDate not supplied

Effects of in-home training for culturally diverse fathers of children with autism.

Recently there has been mounting interest in the role of fathers and the effect of their increasing involvement on child development. However, to date, little has been reported regarding the role of fathers with developmentally delayed children (e.g., autism, pervasive developmental delays) and cultural influences on father-child interactions. In this article we address this knowledge gap by reporting four cases representing the major ethnic groups. For each case, we (1) define the concept of fatherhood in its cultural context, (2) review and summarize related father-child research, and (3) present findings from our study evaluating the effects of an in-home intervention for autistic children. While variability is noted within and among the culturally diverse father-child dyads, there are also similarities across ethnic groups. Results of this study are promising, demonstrating the value of single subject experimental methods in characterizing and beginning to understand complex father-child interactions in autism and related child psychiatric disorders.

Adult↗

PubMedDate not supplied

Motor milestones in children with diastrophic dysplasia.

Diastrophic dysplasia (DD), an autosomal recessive skeletal dysplasia, results in short-limbed short stature, generalized joint dysplasia, and spinal, hand, foot, and ear deformities. Children with DD experience both growth and motor developmental delays. To quantify the motor developmental delays, data on motor milestone attainment and other important characteristics were collected by retrospective questionnaire on 25 individuals with DD. Means and standard deviations were calculated for time to motor milestone attainment and are presented with minimum, maximum, 25th, 50th, 75th, and 90th percentile values. Percentages of individuals who could perform daily living and recreational tasks were tabulated. The mean times to milestone attainment for children with DD are all significantly longer than published means for nonaffected children. Notably, children with DD roll over at 5.2 +/- 2.2 months, sit unsupported at 8.3 +/- 2.3 months, pull up to a stand at 13.5 +/- 5.8 months, and walk at 24.4 +/- 9.2 months. The data presented here should be useful as preliminary reference standards for motor milestone attainment in children with DD.

Activities of Daily Living↗

PubMed1983

Developmental implications of clinically applied vestibular stimulation.

Recent research has promoted the development of several techniques that use various forms of sensory stimulation to improve the neuromotor development of high-risk infants and developmentally delayed children. One of the newest and most popular adjuncts to therapy for developmentally delayed children is vestibular stimulation. The applied clinical research using vestibular stimulation activities with healthy human infants, infants at risk, and young children with developmental delay disorders is reviewed. The literature discussed indicates that controlled vestibular stimulation has had positive effects on arousal level, visual exploratory behavior, motor development, and reflex integration. Also discussed is the need for continued applied clinical research to further substantiate the most effective type of vestibular stimulation and the population for which such stimulation is most beneficial.

Cerebral Palsy↗

PubMedDate not supplied

Playfulness in children with and without disability: measurement and intervention.

OBJECTIVE: The differences in playfulness between young children with cerebral palsy and developmental delays and children who are typically developing, and the comparative effects of two interventions (one focused on improving mother-child interaction patterns, the other a neurodevelopmental treatment [NDT] session) on children's playfulness were examined in this study. Reliability and validity of the Test of Playfulness (ToP) also were examined. METHOD: Three trained raters used the ToP to score 38 children, half with cerebral palsy and developmental delays and half typically developing, as they played with their mothers. Mental ages of the children ranged from 3 to 18 months. The mother-child dyads in which the children had cerebral palsy and developmental delays were then randomly assigned to an intervention group. After a 1-hr intervention to improve mother-child interaction, the children were rescored on the ToP. RESULTS: After examination of ToP reliability and validity, children with cerebral palsy and developmental delays were found to score significantly lower on the ToP than their peers who were typically developing. In addition, children whose mothers received an intervention to improve mother-child interactions scored significantly higher on the ToP after intervention than before intervention. However, the gain scores of children whose mothers received the intervention were not significantly higher than those of children who received direct NDT. CONCLUSION: The results suggested that when the shared goal of parents and therapists is to enable children to express their inherent playfulness, intervention to improve parent-child interactions may be more potent than intervention directed at improving the child's developmental skills.

Adult↗

PubMed2005

Medical and psychiatric comorbidity and health care use among children 6 to 17 years old.

BACKGROUND: The association of psychiatric disorders (PDs) with other PDs and medical disorders (MDs) has been insufficiently explored in children and adolescents. OBJECTIVES: To estimate medical and psychiatric comorbidity present in children with PDs and to determine the medical service usage of children with PDs. DESIGN: We use administrative health care data to describe the health care provided for study children. Psychiatric disorders were classified into the following 3 categories: psychosis, emotion, and behavior. We used logistic regression to assess medical comorbidity for each category. Psychiatric comorbidity was determined using chi(2) test analysis. Health care use was determined by comparing the frequency of visits for MDs and PDs between children with PDs and children without PDs. SETTING: We studied 406,640 children (50.6% male) between 6 and 17 years old, living in Alberta, Canada, during the fiscal year April 1, 1995, through March 31, 1996. RESULTS: A PD was diagnosed in 32,214 (60.3% male) children. Psychiatric comorbidity was present in 13.6% of the children; comorbidity existed in all 3 psychiatric groups and peaked in postpubertal children. More girls than boys had significant medical comorbidity. Significant odds ratios (ORs) for girls varied from 1.2 (behavior and sinusitis, bronchitis, and chronic disorders; psychosis, and menstrual problems) to 15.3 (behavior and developmental delay). Among boys, the highest OR was seen with the combination of behavior and developmental delay (OR, 8.3) and psychosis and poisoning (OR, 8.2). With ORs ranging from 4.6 to 15.3, developmental delay consistently had high ORs for both sexes and all 3 types of PDs. Poisoning also had high ORs (3.3-14.1) with all 3 PDs and both sexes. Among girls, disorders associated with pregnancy and the genitourinary system had modest associations (OR, 1.9-2.2, for behavior) to moderate (OR, 2.5-4.0, for emotion). Children with PDs had significantly greater medical service usage than did children without PDs. Girls had greater medical health care usage than boys. Psychiatric service usage was similar for both sexes. CONCLUSIONS: Medical and psychiatric comorbidity exist in children with PDs. Girls are more commonly affected. Health care usage is higher in children with PDs.

Adolescent↗