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PubMed2004

Predicting motor outcome at preschool age for infants tested at 7, 30, 60, and 90 days after term age using the Test of Infant Motor Performance.

BACKGROUND AND PURPOSE: Accurate and diagnostic measures are central to early identification and intervention with infants who are at risk for developmental delays or disabilities. The purpose of this study was to examine (1) the ability of infants' Test of Infant Motor Performance (TIMP) scores at 7, 30, 60 and 90 days after term age to predict motor development at preschool age and (2) the contribution of the home environment and medical risk to the prediction. SUBJECTS AND METHODS: Sixty-one children from an original cohort of 90 infants who were assessed weekly with the TIMP, between 34 weeks gestational age and 4 months after term age, participated in this follow-up study. The Peabody Developmental Motor Scales, 2nd edition (PDMS-2), were administered to the children at the mean age of 57 months (SD=4.8 months). The quality and quantity of the home environment also were assessed at this age using the Early Childhood Home Observation for Measurement of the Environment (EC-HOME). Pearson product moment correlation coefficients, multiple regression, sensitivity and specificity, and positive and negative predictive values were used to assess the relationship among the TIMP, HOME, medical risk, and PDMS-2 scores. RESULTS: The correlation coefficients between the TIMP and PDMS-2 scores were statistically significant for all ages except at 7 days. The highest correlation coefficient was at 90 days (r=.69, P=.001). The TIMP scores at 30, 60, and 90 days after term; medical risk scores; and EC-HOME scores explained 24%, 23%, and 52% of the variance in the PDMS-2 scores, respectively. The TIMP score at 90 days after term was the most significant contributor to the prediction. The TIMP cutoff score of -0.5 standard deviation below the mean correctly classified 80%, 79%, and 87% of the children using a cutoff score of -2 standard deviations on the PDMS-2 at 30, 60, and 90 days, respectively. DISCUSSION AND CONCLUSION: The results compare favorably with those of developmental tests administered to infants at 6 months of age or older. These findings underscore the need for age-specific test values and developmental surveillance of infants before making referrals.

Child Behavior↗
PubMed2003

Developmental trajectories of cocaine-and-other-drug-exposed and non-cocaine-exposed children.

Few data are available concerning the trajectories of mental and motor development across time for cocaine-exposed children compared with others. Findings are presented from individual group curve analyses of the mental and motor development measured by the Bayley Scales of Infant Development-II (BSID-II) on repeated visits from 3 through 36 months of a group of prenatally cocaine-and-other-drug-exposed children (n = 265) compared with those exposed to no drugs (n = 129) or no-cocaine-but-other-drugs (n = 66), including alcohol and/or tobacco. Across time, there was a general decline in motor performance but cocaine-exposed-infants showed a trend toward a greater decrease than children in the other two comparison groups. For mental performance, there was also a decline across age but only through 24 months and no differences in the trajectory of the cocaine-exposed group compared to the other two. And, across all assessment ages, cocaine-exposed-infants showed lower BSID-II mental performance compared to both non-drug and non-cocaine-exposed children. Results suggest that prenatally cocaine-exposed children show delayed developmental indices, particularly in their mental performance, but their trajectories across time are similar to those from impoverished, non-cocaine-exposed groups.

Child↗
PubMed1997

A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.

UNLABELLED: A new case of mitochondrial malonyl coenzyme A decarboxylase deficiency is described. The patient presented with an initial episode of metabolic acidosis, seizures, hypoglycemia, and cardiac failure at 2 months of age which slowly resolved. Subsequent evaluations at 4 years of age for developmental delay revealed a prominent elevation of malonic acid in urine. Malonyl carnitine was also elevated. The activity of Malonyl CoA decarboxylase in cultured fibroblasts was 7% of normal. CONCLUSION: Malonyl CoA decarboxylase deficiency may result in inhibition of fatty acid oxidation, which may account for the cardiomyopathy.

Acidosis↗
PubMed2003

Mastery motivation in young children with Down's syndrome: relations with cognitive and adaptive competence.

BACKGROUND: Prior research on relations between motivation and competence have focused on cognitive competence, despite theoretical predictions that mastery motivation spurs behaviour that is effective in meeting the demands of one's environment, i.e. adaptive competence. Issues of adaptive competence are especially relevant for children with developmental delay since functional independence is an important long-term goal for these children. METHODS: In the present study, mastery motivation was examined in relation to both cognitive and adaptive competence in 5-year-old children with Down's syndrome (n = 41). RESULTS: Scores on mastery task and parent-report measures of mastery motivation were generally low, but positively related to scores on standardized measures of cognitive competence and adaptive competence. CONCLUSIONS: This is the first study of motivation-competence relations in pre-school-age children. The findings have implications for both developmental theory and early intervention efforts, and the authors hope that they will serve as a stimulus for future research on cross-domain relationships in atypical populations.

Adaptation, Physiological↗
PubMed1994

An interstitial deletion of chromosome 7(q35).

We describe a patient with developmental delay, mild dysmorphic features, and monosomy of 7q35. Only one other patient with an interstitial deletion of this band has been previously reported. A review of clinical features of these two children did not show similarities in dysmorphic features. Reports of patients with other 7q interstitial deletions are listed.

Child↗
PubMed2003

Cerebellar ataxia and coenzyme Q10 deficiency.

The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset ataxia and cerebellar atrophy had markedly decreased levels of CoQ10. Associated symptoms included seizures, developmental delay, mental retardation, and pyramidal signs. These findings confirm the existence of an ataxic presentation of CoQ10 deficiency, which may be responsive to CoQ10 supplementation.

Adolescent↗
PubMed1989

Caretaking burden and social support: comparison of mothers of infants with and without disabilities.

Data concerning mothers' perceptions of child caretaking burden, fathers' participation in child caretaking, and satisfaction with social support were analyzed for a 202 member sample consisting of mothers of infants with Down syndrome, motor impairment, developmental delay, and no known disabilities. The results were contrary to some common findings from the literature. Significant differences among the four groups were found on difficulty of and time devoted to caretaking, number of tasks with which fathers helped, and satisfaction with support from family, friends, and community groups. The programmatic and policy implications of these findings were discussed.

Developmental Disabilities↗
PubMed1991

Brain and ocular abnormalities in infants with in utero exposure to cocaine and other street drugs.

We describe 10 infants with developmental delay and congenital cerebral anomalies who were found to have had in utero exposure to vasoactive drugs. Nine infants had ophthalmological abnormalities; these included strabismus, nystagmus, and/or hypoplastic optic discs. Six mothers used cocaine, one used cocaine and heroin, one used only heroin, one used amphetamine, and one used phenylpropanolamine. Each of these cerebral anomalies (agenesis of the corpus callosum, septo-optic dysplasia, schizencephaly, hydranencephaly, congenital hydrocephalus, porencephaly, and cerebral infarctions) can be attributed to insults at different stages of development. There appears to be a relationship between the time of prenatal drug exposure and the type of cerebral anomaly, evoking malformations, disruptions, or fetal strokes. Since many or possibly all of these anomalies are thought to have a vascular origin, it seems appropriate to implicate prenatal exposure to vasoactive drugs.

Ataxia↗
PubMed1996

Language level and nonverbal social-communicative behaviors in autistic and language-delayed children.

OBJECTIVE: To explore the relationship of general expressive language delay to nonverbal social-communicative deficits and repetitive behaviors associated with autism in preschool children. METHOD: Interviews of the parents of 51 autistic and 43 nonautistic 3- to 5-year-olds with language impairments were compared. RESULTS: Main effects of the children's language level occurred for the majority of social and nonverbal communication items but not for restricted, repetitive behaviors or showing and directing attention, socially directed gaze, or range of facial expression. CONCLUSIONS: In addition to the specific impairments of autism, a broader conceptualization of communication handicap is urged for preschool children with developmental delays.

Attention↗
PubMed1981

The Weaver syndrome: a rare type of primordial overgrowth.

A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported. Two cases in the literature- referred to as Weaver syndrome- exhibited nearly identical anomalies. All three cases were sporadic. Main symptoms of the Weaver syndrome are increased birth weight, early overgrowth, macrocephaly, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia of muscles and mild developmental delay. Further symptoms are thin, deep-set nails, talipes equinovarus, widened distal femora, and some minor abnormalities. A second boy with primordial overgrowth and macrocephaly demonstrated some, but not all, the symptoms of this syndrome. Whether this boy showed a milder expression of the Weaver syndrome or benign familial macrocephaly is discussed.

Abnormalities, Multiple↗
PubMed1975

The fetal trimethadione syndrome.

Three families are described in which each of the mothers took trimethadione during pregnancy. From a comparison of siblings in each family and of others exposed to trimethadione in utero, a specific phenotype is delineated. Features included in the fetal trimethadione syndrome are developmental delay, speech difficulty, V-shaped eyebrows, epicanthus, low-set ears with anteriorly folded helix, palatal anomaly, and irregular teeth. Additional anomalies in some of the patients include intrauterine growth retardation, short stature, microcephaly, cardiac anomaly, ocular anomaly, hypospadias, inguinal hernia, and simian creases.

Abnormalities, Drug-Induced↗
PubMed2000

Community-based early intervention: the Coimbra project (Portugal).

The Coimbra Early Intervention Project was undertaken to develop the first co-ordinated, multidisciplinary, interagency programme involving health care, education and social services, using existing resources in the community. The programme operates region wide and supports annually about 160 families and children with disabilities or at risk. Thirty-three per cent of the 601 children served so far had developmental delay, 22% belonged to high-risk families and 45% had risk factors and disabilities. In spite of difficulties, the programme success has increased awareness of the need to integrate and co-ordinate multiple community services and to develop legislation for the provision of early intervention services.

Child↗
PubMed1987

Lissencephaly (agyria-pachygyria): clinical findings and serial EEG studies.

Fifteen cases of lissencephaly were studied and the literature reviewed. The authors conclude that the clinical findings of lissencephaly in infancy are non-specific, consisting of developmental delay and hypotonia. While the CT scan establishes the diagnosis, it may also be strongly suggested by an EEG showing 'major fast dysrhythmia', characterized by abnormally rapid, very high-voltage activity, predominantly in the alpha and beta frequency bands. Some possible mechanisms for this highly suggestive EEG pattern are proposed.

Brain↗
PubMed1998

Cortical malformations: a significant cause of paediatric neurological morbidity.

Disorders of cortical development are a significant cause of epilepsy, developmental delay and congenital neurological deficits in children of all ages. Disruption of neuronal proliferation, differentiation, migration and organization during the middle trimester are recognized as the basis of most of these disorders. With advances in magnetic resonance imaging and increasing recognition of the characteristic radiological appearance of these lesions, a variety of lesions are now described. Furthermore, detailed clinical and genetic studies have lead to the recognition of clinicopathological syndromes of cortical maldevelopment with specific modes of inheritance. Our understanding of these disorders is increasing rapidly and will continue to do so with improvements in neuroimaging, advances in developmental neurobiology and heightened clinician awareness.

Brain↗
PubMed1994

Deletion (11)(q14.1q21).

We report on a 4-year-old girl with moderate developmental delay, horseshoe kidney, bilateral duplication of the ureters with right upper pole obstruction, hydronephrosis and nonfunction, and subsequent Wilms tumor of the right lower pole. She had an interstitial deletion of the long arm of chromosome 11 involving the region 11(q14.1q21).

Abnormalities, Multiple↗
PubMed1991

Miller-Dieker syndrome with ring chromosome 17.

A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later developed intractable convulsions and died at the age of 9 months.

Abnormalities, Multiple↗
PubMed1983

Infant health and family functioning in a poor socio-economic status multi-ethnic municipality.

In a longitudinal epidemiological study of 272 infants in a poor socio-economic, multi-ethnic municipality, the physical growth of infants was found to be within a normal range. Two percent of infants had major, and 2% minor developmental delays due mainly to congenital defects or psychosocial disturbance or neglect in the home. Although there was a high prevalence of episodic, continuing and recurrent illness, this caused little serious morbidity. The most significant finding was that approximately one third of mothers perceived their infants to have moderate or severe behavioural disturbances which were significantly associated with their own psychological ill-health. The findings from this urban population contrasted with previous studies. Serious infective illnesses, associated with poor physical and psychosocial environments, were no longer major health problems. These organic diseases in infants were largely replaced by behavioural and developmental disturbances, also associated with psychosocial problems in families.

Australia↗
PubMed2001

Congenital myotonic dystrophy.

Myotonic muscular dystrophy is the most frequent autosomal muscular dystrophy affecting adults and children. It affects multiple organ systems and is probably the best example of variable expressivity in a human disease. This article presents a patient with congenital myotonic dystrophy who had facial dysmorphism, hypotonia, talipes, feeding and respiratory difficulties in the neonatal period and later presented to us with developmental delay and had percussion myotonia. His mother had clinical and electrophysiological features of myotonia. Expansion of unstable CTG trinucleotide repeat in the myotonic protein kinase gene was demonstrated in both. The identification of this molecular defect allows its specific diagnosis in relation to other neuromuscular disorders as well as accurate prenatal diagnosis.

Child, Preschool↗