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Autism from 2 to 9 years of age.

CONTEXT: Autism represents an unusual pattern of development beginning in the infant and toddler years. OBJECTIVES: To examine the stability of autism spectrum diagnoses made at ages 2 through 9 years and identify features that predicted later diagnosis. DESIGN: Prospective study of diagnostic classifications from standardized instruments including a parent interview (Autism Diagnostic Interview-Revised [ADI-R]), an observational scale (Pre-Linguistic Autism Diagnostic Observation Schedule/Autism Diagnostic Observation Schedule [ADOS]), and independent clinical diagnoses made at ages 2 and 9 years compared with a clinical research team's criterion standard diagnoses. SETTING: Three inception cohorts: consecutive referrals for autism assessment to (1) state-funded community autism centers, (2) a private university autism clinic, and (3) case controls with developmental delay from community clinics. PARTICIPANTS: At 2 years of age, 192 autism referrals and 22 developmentally delayed case controls; 172 children seen at 9 years of age. MAIN OUTCOME MEASURES: Consensus best-estimate diagnoses at 9 years of age. RESULTS: Percentage agreement between best-estimate diagnoses at 2 and 9 years of age was 67, with a weighted kappa of 0.72. Diagnostic change was primarily accounted for by movement from pervasive developmental disorder not otherwise specified to autism. Each measure at age 2 years was strongly prognostic for autism at age 9 years, with odds ratios of 6.6 for parent interview, 6.8 for observation, and 12.8 for clinical judgment. Once verbal IQ (P = .001) was taken into account at age 2 years, the ADI-R repetitive domain (P = .02) and the ADOS social (P = .05) and repetitive domains (P = .005) significantly predicted autism at age 9 years. CONCLUSIONS: Diagnostic stability at age 9 years was very high for autism at age 2 years and less strong for pervasive developmental disorder not otherwise specified. Judgment of experienced clinicians, trained on standard instruments, consistently added to information available from parent interview and standardized observation.

Adult↗

Early development and unstable genes in schizophrenia: preliminary results.

BACKGROUND: Trinucleotide repeats have been associated with schizophrenia, but the evidence, based on cross-sectional clinical information, is equivocal. AIMS: To examine the relationship between genomic CAG/CTG repeat size and premorbid development in schizophrenia. METHOD: Early development and premorbid functioning of 22 patients with DSM-IV diagnosis of schizophrenia were assessed by parental interviews. Repeat expansion detection (RED) technique was used to measure genomic CAG/CTG repeat size, and PCR for CAG repeat size at the ERDA-1 and CTG 18.1 loci. RESULTS: There was an inverse association between CAG/CTG size and perinatal complications. Patients with speech and motor developmental delay had larger repeats. The results were not due to expansion in the ERDA-1 and CTG 18.1 genes. CONCLUSIONS: CAG/CTG repeat expansion is associated with speech and motor developmental delay in schizophrenia. We propose that the developmental model may be useful for research into the genetics of schizophrenia.

Adult↗

A new developmental screening test. The Denver II.

To maximize the potential of a child with a developmental delay, early detection and intervention is essential (Frankenburg and Thornton, 1989). The nurse practitioner who includes a developmental screening with the child's general assessment may detect a developmental delay during a routine office visit. The purpose of this article is to provide an overview of the Denver II, a new developmental screening test.

Child, Preschool↗

Validity of the Clinical Adaptive Test (CAT)/Clinical Linguistic and Auditory Milestone Scale (CLAMS) as a screening instrument for very low birth weight infants in Taiwan.

The authors investigated the validity of the Clinical Adaptive Test (CAT)/Clinical Linguistic and Auditory Milestone Scale (CLAMS) for developmental screening and early prediction in very low birth weight (VLBW) infants, using the Bayley Scales of Infant Development II (BSID-II) as a reference standard. A total of 808 VLBW infants discharged from neonatal intensive care units in Taiwan from January 1995 to December 1997 were enrolled and followed up at the corrected ages of 6, 12, 18, and 24 months. The CAT/CLAMS and BSID-II were performed separately during each visit. The CAT/CLAMS showed strong concurrent correlations (r = 0.51-0.86, p < .0001) with BSID-II mental developmental index (MDI), and had high conegativity scores (96.7%-100%) but low copositivity scores (30.0%-45.3%) for detecting developmental delay. At 24 months of age, the CAT/CLAMS had better predictive validity for significant (MDI <70) rather than borderline (MDI = 70-84) developmental delay. The authors conclude that the CAT/CLAMS is not an appropriate developmental instrument for screening and early prediction in VLBW infants in Taiwan.

Case-Control Studies↗

Fetal valproate syndrome: clinical and neuro-developmental features in two sibling pairs.

The clinical and neurodevelopmental features are presented of four children--two sibling pairs--who were exposed in utero to valproic acid. One of each pair of children presented for diagnosis and assessment of developmental delay; the other sibling was examined at a later date. Three of the children were globally developmentally delayed with marked speech disability, and had dysmorphic features consistent with fetal valproate syndrome. One also had features of infantile autism. The fourth child had some of the dysmorphic features connected with fetal valproate syndrome, but had normal intellect, with his verbal ability being significantly below his non-verbal ability. He currently attends a school for learning-disabled children.

Adult↗

Partial trisomy 2q: report of a patient with dup (2)(q33.1q35).

The partial trisomy 2q phenotype has been well described in the literature, primarily through cases of unbalanced translocations. While these reports contributed to the initial delineation of the phenotype, reports of de novo duplications are valuable in that they exist in the absence of an accompanying monosomy. We describe a 16-month-old female with a de novo duplication of 2q from bands q33.1 to q35. The clinical findings of this patient include a congenital heart defect, dysmorphic facial features, hypotonia, feeding difficulties, and developmental delay. In contrast to most reported individuals with trisomy 2q, this patient demonstrates only mild developmental delays. We compare our findings with other case reports of partial trisomy 2q.

Chromosome Banding↗

Iron deficiency and infant development.

It has been shown that iron-deficient anemic infants are not as successful in tests of mental and motor development as their iron-sufficient age-matched counterparts. A recent study has confirmed that iron intervention can reverse developmental delays, while placebo-treated anemic infants showed no such improvement. The etiology of the developmental delay and its effect on later performance remain to be elucidated.

Anemia, Hypochromic↗

22q13 deletion syndrome: an update and review for the primary pediatrician.

Recent advances in genetic testing can help to provide a specific diagnosis to children born with syndromes that result in congenital anomalies and developmental delay. One such emerging condition is the 22q13 deletion syndrome. With the introduction of subtelomeric fluorescence-in-situ hybridization (FISH) analysis, the 22q13 deletion has become recognized as a relatively widespread and underdiagnosed cause of mental retardation. Primary-care physicians play an important role in the care of children with 22q13 deletion syndrome, from suspecting the diagnosis in a developmentally delayed child through the medical, developmental, and behavioral aspects of their care. Furthermore, they serve as a valuable source of support and advocacy for the family and a resource for other care providers. The remainder of this article addresses the current state of knowledge regarding 22q13 deletion syndrome and offers the primary-care physician a framework in which to provide care and information.

Child↗

[Schizencephaly--clinical and radiological presentation of pediatric patients].

UNLABELLED: Schizencephaly is a rare central nervous system malformation. The anomaly is characterized by uni- or bilateral clefts in the brain's cerebral hemispheres. There are 2 types of the anomaly distinguished: type I ("closed lips") if there are fused clefts in cerebral mantle and type II ("open lips") if the clefts are separated. The etiology of this malformation is not clear; both environmental (intrauterine cytomegaloviral infection) and genetic risk factors are considered (mutations in EMX2, Lhx2 genes). The aim of the study was the analysis of clinical presentation, neurodevelopment progress and seizures in children with schizencephaly. MATERIAL AND METHODS: We examined 9 children (4 girls, 5 boys) at the age of 3 months to 11 years at the time of schizencephaly diagnosis. The neuroimaging (computed tomography--CT or/and magnetic resonance imaging--MRI) was performed in all of the patients. We found bilateral schizencephaly in 7 patients and unilateral in 2 of them; in 5 patients the brain anomalies other than schizencephaly were found. Epileptic seizures are present in 7 patients; in 2 of them the epilepsy is drug resistant. The development is delayed in all our patients, in spite of one. CONCLUSIONS: Schizencephaly is a severe brain malformation almost always leading to developmental delay and epilepsy. We did not found the correlation between the type of anomaly and clinical course, the degree of developmental delay and the severity of epilepsy in our group patients.

Cerebral Cortex↗

Use of taxonomies to sequence clinical objectives.

This paper describes the use of four educational taxonomies in establishing a task grid for guiding and determining sequential learning opportunities and activities for the developmentally delayed child and for treatment planning for team members working with the child. It describes a three-dimensional grid that includes learners, areas of learning, and levels of learning. To clarify the use of this model, the grid has been applied to feeding intervention with the delayed child. Use of the task grid suggests three factors are needed in intervention with the developmentally delayed child: 1. objectives should be stated for all domains of learning since learning occurs concurrently in different areas; 2. activities should be sequenced not only for the child but also for all those directly involved with the child, since all are involved in the learning process; and 3. analytical behavior should be stimulated in the therapist so that theory-based practice can be realized.

Child↗

Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family.

Two siblings from China have been observed with severe short stature of prenatal onset and developmental delay. The radiographic features were characteristic of Desbuquois syndrome. The association of a genetic skeletal dysplasia and developmental delay is a relatively rare combination, although this syndrome is readily diagnosable from its distinctive radiographic features.

Abnormalities, Multiple↗

Comparison of Vineland Adaptive Behavior Scales-Survey Form age equivalent and standard score with the Bayley Mental Development Index.

The Vineland Adaptive Behavior Scales-Survey Form standard score, Vineland Adaptive Behavior Scales-Survey Form age equivalent and Bayley scales' Mental Development Index were given to 44 high-risk infants age 12 mo. and suspected of developmental delay. The VABS-Survey Form, a revision of the Vineland Social Maturity Scale is frequently used in assessment of developmental delay; however, questions have arisen as to whether the standard score or age equivalent is the better measure. A developmental quotient based on VABS-SF age equivalent and VABS-SF standard score was compared with the Bayley Mental Development Index. The mean VABS-SF standard score was significantly higher than the age equivalent quotient and the Bayley Mental Development Index. Implications for the use of VABS-SF age equivalent in evaluating such infants are discussed.

Age Factors↗

The blink reflex in neonates with a subsequent poor outcome.

We examined maturational changes in the electrical blink reflex in 11 handicapped children, i.e., 4 cases of developmental delay, 4 of cerebral palsy, 2 of congenital hydrocephalus, and 1 of congenital cytomegalovirus infection. The developmental delay and cerebral palsy cases were all born at 25-36 weeks' gestation. In all cases, prolonged latency, low amplitude, or the absence of the late component of the blink reflex was observed in the follow-up study. These results indicate that prematurity and some congenital impairment mainly influence the maturation of the long-loop reflex arc in the blink reflex.

Blinking↗

One-year neurodevelopmental outcome after moderate newborn hypoxic ischaemic encephalopathy.

OBJECTIVES: To define the 1-year neurodevelopmental outcome for survivors of moderate (Sarnat stage 2) neonatal hypoxic-ischaemic encephalopathy (HIE) to facilitate appropriate parental counselling. METHODS: Hospital-based retrospective review of admissions to a tertiary newborn intensive care unit between 1988 and 2000. All babies admitted for seizures were reviewed and those in whom the probable diagnosis was moderate HIE were identified from chart review. Perinatal variables, number of anticonvulsants, duration of hospital stay and 1-year neurodevelopmental outcome was recorded in survivors. RESULTS: Fifty-three babies who survived probable moderate HIE were identified. Forty-two of these were seen at 1 year of age. Of these, 22 (52%) had normal development and neurological examination and four (9.5%) had mild developmental delay with normal neurological examination. Thirteen babies (31%) had cerebral palsy, 11 of whom also had developmental delay. Two infants (5%) who had been severely impaired at 6 months died before 1 year of age. Overall, 36% of survivors of the neonatal period had significant disability and or had died by 1 year of age. Duration of anticonvulsant treatment and length of hospital stay were significantly related to adverse outcome. CONCLUSIONS: These data suggest morbidity rates after moderate HIE in the upper end of the range previously described in the literature. Systematic longer-term follow up of this high-risk group of infants is needed.

Apgar Score↗

Perinatal factors and the developmental outcome of preterm infants.

To determine the developmental outcome of sick preterm infants, a retrospective analysis of 101 preterm infant survivors, cared for a teaching hospital's neonatal intensive care unit, was conducted. Information regarding the one-year developmental outcome was compared with significant perinatal factors: birth weight, gestational age, neonatal mortality index, respiratory distress syndrome (RDS) severity, and high-risk pregnancy factors. Eighteen percent of all infants studied had developmental delays indicating an improved prognosis for preterm infants. Severe RDS survivors had the greatest incidence of developmental delays and the most high-risk pregnancy histories.

Birth Weight↗

Early identification of risk for effects of prenatal alcohol exposure.

OBJECTIVE: Fetal alcohol syndrome (FAS) and less severe outcomes are typically diagnosed later in childhood, although earlier diagnosis of the effects of exposure would allow intervention in infancy and prevention of associated secondary disabilities. Identification is particularly difficult in such high-risk groups as low-birthweight infants. The goal of this study was to develop methods for early identification of at-risk infants. METHOD: Three methods (microcephaly, heavy episodic drinking [> 5 drinks/occasion] in pregnancy and a cumulative risk index) identified neonates at risk for those developmental consequences of prenatal exposure that can be measured at 6 and 12 months (i.e., standard scores on Bayley Scales of Infant Development and growth measures). The usefulness of these methods was assessed by comparing those infants selected to an unexposed contrast group, while controlling for potentially confounding factors (e.g., race, socioeconomic status and birthweight). RESULTS: At 6 months, when 70 infants were tested, trends were found for lower language facet scores and lower scores on the Behavioral Regulation Scale; at 12 months, when 134 were tested, alcohol-exposed infants had significantly lower cognitive facet scores (p < .02) and were more likely to be classified as either mildly or significantly developmentally delayed (p < .02). CONCLUSIONS: It is possible to identify infants at risk for alcohol-related developmental delays using information available in the neonatal period, although it is not usually done. Of the three methods tested, a cumulative risk index based on maternal characteristics was found to be most predictive.

Adult↗

Psychometric properties and standardization samples of four screening tests for infants and young children: a review.

PURPOSE: This article compares traditional psychometric properties (interrater and test-retest reliability, concurrent and predictive validity), clinical epidemiological characteristics (sensitivity, specificity, and positive predictive values), and standardization samples of four tests useful to pediatric therapists in screening infants and young children for developmental delays. SUMMARY OF KEY POINTS: Pediatric therapists are often involved in screening infants and young children for developmental delay. Ideally, they will use standardized tests that have strong psychometric properties (eg, reliability, validity, sensitivity, specificity). The four tests described in this article vary in meeting these criteria. They vary as well in the domains assessed, age ranges for which they are intended, and desired qualifications of the examiners. CONCLUSIONS: Each of the four tests reviewed has identified strengths and weaknesses. Practicing clinicians should select screening tests based on the test's stated purpose, qualifications of the examiner, age range covered, administration and scoring time, developmental domains encompassed, comparability of the standardization sample, and strength of the test's psychometric properties.

Canada↗

Children's psychological health status--the impact of liver transplantation: a review.

Medical audit needs to encompass physical, psychological and social aspects to patient functioning. The aim of this paper is to review the psychosocial impact of liver transplantation on children and their families. Evidence suggests that end stage liver diseases are associated with developmental delays. Emotional and behavioural problems are common and have been found to relate to the child's developmental status, physical appearance as well as family functioning. Post transplant, children and families often experience an exacerbation of preexisting emotional problems. One year post transplant, children typically show continuing developmental delays. Longer term assessments of quality of life suggest that children may experience fewer hospital contacts and that over time psychological difficulties reduce. Many families continue to experience problems in normalizing their interactions within and outside the family. The findings demonstrate the importance of including psychosocial outcomes in auditing the efficacy of medical interventions.

Child↗