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PubMed1990

[Prognosis of three-year-old children with developmental speech delay: reading and writing abilities at eight years of age].

Of 1761 three-year-old children born in 1979-80 and lived at Yonago city, Japan, 28 (1.6%; 25 boys and girls) were diagnosed as developmental speech delay by two pediatric neurologists. Reading and writing skills were evaluated in twelve of the speech delayed children at 8 years by ITPA, Token test and their compositions. Their results showed that reading or writing skill was delayed in many of them, especially in those with behavioral disorders, such as hyperkinetic behavior and poor personal relationship at 3 years.

Child↗

PubMed1988

Impact of delayed development in premature infants on mother-infant interaction: a prospective investigation.

We examined events that precede a diagnosis of developmental delay by comparing 16 very low birth weight premature infants whose condition was diagnosed as developmental delay at 18 months corrected age with 16 matched developmentally normal infants. All infants were observed with their mothers during maternal visits to the nursery and during home visits 1, 3, 6, and 9 months after discharge. The mothers' reactions to their infants were rated at these times. All the children were followed up at a neonatal clinic, and detailed clinic records were used to document the time when a physician first suspected a delay and when this delay was first mentioned to the mother. The results indicate that parents had usually been told of their child's handicap by the time the child was 6 to 9 months old; yet mothers of the delayed children changed the interaction with their children as early as 1 month after discharge from hospital. These mothers initially touched, smiled at, and talked to their developmentally delayed infants significantly more often, but by 9 months they did so much less often than mothers of nondelayed children. The degree of change in mothers' behavior was related to their psychosocial background, with better-adjusted mothers showing the most change. We conclude that mothers' statements about their infants are usually valid and that physicians may share their potential concerns about infants more freely.

Adult↗

PubMed1998

Evolution of immunologic functions of the mammary gland and the postnatal development of immunity.

Physiologic delays in production of immune factors occur in mammals including Homo sapiens. This finding is counter to a basic tenet of biologic evolution, because such delays increase the risk of infections. The disadvantage is, however, offset by defense factors in milk of the species in whom the developmental delay occurs. Reciprocal relationships between the production of immune factors by the lactating mammary gland and the production of those defense agents during early infancy are found in all investigated mammalian species. Thus, the evolution of these processes is closely related. Certain immunologic components of milk are highly conserved, whereas others vary according to the species. The variations most likely evolved by genetic mutations and natural selection. In addition, the immune composition of mammalian milks is associated with developmental delays in the same immunologic agents. Furthermore, most closely related mammals, such as humans and chimpanzees, are most similar in the defense agents in their milks and the corresponding developmental delays in their immune systems. Defense factors in human milk include antimicrobial agents (secretory IgA, lactoferrin, lysozyme, glycoconjugates, oligosaccharides, and digestive products of milk lipids), antiinflammatory factors (antioxidants, epithelial growth factors, cellular protective agents, and enzymes that degrade mediators of inflammation), immunomodulators (nucleotides, cytokines, and antiidiotypic antibodies), and leukocytes (neutrophils, macrophages, and lymphocytes). Because of a lack of geographic/ethnic variation in the immunologic composition of human milk and corresponding immunologic delays in infants, these evolutionary processes seem stable. This is supported by investigations of diverse populations that indicate that this evolutionary outcome is highly beneficial to human infants.

Animals↗

PubMed1995

Neurodevelopmental outcome of preterm infants with bronchopulmonary dysplasia.

The neurodevelopmental outcome of 78 infants with bronchopulmonary dysplasia (BPD) was compared with that of 78 control infants matched for birthweight. To determine the effect of the severity of BPD, 62 infants requiring oxygen at 36 weeks' postmenstrual age (sBPD) were compared with their matched controls. Infants were followed up to 2 years of age, corrected for prematurity, and were classified for neurological impairment, developmental delay, and neurodevelopmental disability. Seventy six (98%) BPD infants and 71 (91%) controls had follow up data available to two years. Neurological impairment, developmental delay, and neurodevelopmental disability occurred more frequently in infants with BPD than in controls but this was not significant. For infants with sBPD, the increased incidence of neurological impairment and definite developmental delay was not significant when compared with the controls, though neurodevelopmental disability occurred more frequently (odds ratio (OR) 3.6: 95% confidence intervals (CI) 1.1-11.8). Predictors of disability in infants with sBPD included periventricular haemorrhage (OR 19.4: 95% CI 4.3-86.6), ventricular dilatation (OR 12.8: 95% CI 2.9-57.3), and sepsis (OR 5.0: 95% CI 1.3-19.4). Adjusting for the presence of these factors, the association between BPD and disability was no longer apparent (OR 0.9: 95% CI 0.2-3.6). The findings suggest that BPD is not independently associated with adverse neurodevelopmental outcome.

Bronchopulmonary Dysplasia↗

PubMed1982

Replacement children: Expanding the concept.

A case report of a family that considered having a replacement child after one of their children was diagnosed as having a developmental delay is presented, and the literature dealing with replacement children is reviewed. The definition of a replacement child is expanded to include children who are conceived after a sibling has been diagnosed as having a developmental delay. Recommendations are made for the pediatrician who is responsible for the care of the child with a newly diagnosed developmental delay.

Adult↗

PubMed2003

Developmental recovery and deficit in children adopted from Eastern European orphanages.

This research examined the degree of developmental recovery during the 1st year of placement in a sample of 124 children adopted from Eastern European orphanages. At the time of adoption, substantial growth and developmental delays were identified, with about half below the 5th percentile on weight and on height. Results indicated that there was considerable catch-up in all areas at postadoption. However, older, later placed children exhibited more developmental delays compared with earlier adopted children. Regression analysis revealed that the degree of developmental delay at the time of adoption, along with the duration of time spent in the adoptive home and age at adoption placement, predicted significant amounts of variance associated with developmental catch-up. In contrast, weight and height at time of adoption were not related to children's development postadoption.

Adoption↗

PubMed2024

Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay.

This research analyzes the clinical data, whole-exome sequencing results, and in vitro minigene functional experiments of a child with developmental delay and intellectual disability. The male patient, aged 4, began experiencing epileptic seizures at 3 months post-birth and has shown developmental delay. Rehabilitation training was administered between the ages of one and two. There were no other significant family medical histories. Through comprehensive family exome genetic testing, a hemizygous variant in the 11th exon of the OPHN1 gene was identified in the affected child: c.1025 + 1G > A. Family segregation analysis confirmed the presence of this variant in the patient's mother, which had not been previously reported. According to the ACMG guidelines, this variant was classified as a likely pathogenic variant. In response to this variant, an in vitro minigene functional experiment was designed and conducted, confirming that the mutation affects the normal splicing of the gene's mRNA, resulting in a 56 bp retention on the left side of Intron 11. It was confirmed that OPHN1: c.1025 + 1G > A is the pathogenic cause of X-linked intellectual disabilities in the child, with clinical phenotypes including developmental delay and seizures.

Humans↗

PubMed2005

Effects of hypoglycemia on developmental outcome in children with congenital hyperinsulinism.

Children with congenital hyperinsulinism are at risk for recurring, severe episodes of hypoglycemia that can cause seizures, brain damage, and developmental delay. To assess the frequency of permanent brain damage in this disorder, we carried out a telephone survey of 68 children who presented to The Children's Hospital of Philadelphia between 1980 and 2000. One third of the group had some degree of developmental delay. Those presenting in the first week of life and those with medically unresponsive hyperinsulinism were more likely to have delays. Early recognition and control of hypoglycemia are essential for preventing developmental delay in these children.

Age Distribution↗

PubMed2001

Developmental surveillance and screening of infants and young children.

Early identification of children with developmental delays is important in the primary care setting. The pediatrician is the best-informed professional with whom many families have contact during the first 5 years of a child's life. Parents look to the pediatrician to be the expert not only on childhood illnesses but also on development. Early intervention services for children from birth to 3 years of age and early childhood education services for children 3 to 5 years of age are widely available for children with developmental delays or disabilities in the United States. Developmental screening instruments have improved over the years, and instruments that are accurate and easy to use in an office setting are now available to the pediatrician. This statement provides recommendations for screening infants and young children and intervening with families to identify developmental delays and disabilities.

Child Development↗

PubMed2004

Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.

The allelic autosomal recessive lysosomal storage disorders Salla disease and infantile free sialic acid storage disease (ISSD) result from mutations in SLC17A5. This gene codes for sialin, a lysosomal membrane protein that transports the charged sugar, N-acetylneuraminic acid (sialic acid), out of lysosomes. ISSD has a severe phenotype with infantile onset, while the Finnish variant, Salla disease, has a milder phenotype with later onset. Both disorders cause developmental delay, and ISSD is generally fatal in early childhood. We describe a 30-month old non-Finnish, Caucasian child with global developmental delay of postnatal onset, language, and motor skills stagnant at a 3-4 month level, hypotonia, and mild but progressive coarsening of facial features. Urinary excretion of free sialic acid was elevated 4.5 times above control. EM of a skin biopsy revealed enlarged secondary lysosomes consistent with oligosaccharide storage. Free sialic acid in fibroblasts was 3.8+/-0.9 nmol/mg protein (concurrent normal controls, 0.5+/-0.1); differential centrifugation indicated a lysosomal location. Genomic analysis revealed compound heterozygosity for two new SLC17A5 mutations. This child's clinical manifestations of a lysosomal free sialic acid storage disease are consistent with her sialin mutations and biochemical findings. The differential diagnosis of postnatal developmental delay should include free sialic acid storage disorders such as ISSD and Salla disease.

Base Sequence↗

PubMed1995

Mental and somatic health and social adjustment in ordinary school children during childhood and adolescence related to central nervous functions as expressed by a complex reaction time.

A cohort of ordinary Swedish children were followed up from school entry through childhood and adolescence and checked retrospectively from birth to the age of 6 years regarding psychiatric and physical health and contact with the social welfare authorities. The children were allocated to different risk groups at age 7 on the basis of their psycho-physical development expressed as complex reaction time (CRT). It was previously shown that many of the slow CRT children have problems in psychomotor and language development at school, and that many leave compulsory school with poor achievements in Swedish and gymnastics as continuing signs of their developmental delay. This study shows that slow CRT children have an increased prevalence of child psychiatric problems. At an early age there were symptoms of aggression, hyperactivity and withdrawal in conjunction with developmental delay. During adolescence, depression, maladjustment and psycho-somatic disorders were prominent features, often in association with developmental delay, dyslexia and poor motoric skill. These children could have a disadvantage at school and in society and they felt themselves "handicapped" and were stressed by feelings of limited future possibilities. In adolescence, many of them were in need of help, especially financial aid from the social welfare services. The findings stress that a slow cognitive processing ability seen as a slow CRT must be considered a handicap of importance and a risk-factor in the society of today, with primary or secondary psychic and social manifestations often in a multifactorial setting of biological co-morbidity and family problems. In contrast, an advanced CNS development with a fast CRT may be seen as a protective factor.

Adolescent↗

PubMed1996

Psychological markers in the detection of autism in infancy in a large population.

BACKGROUND: Investigation to see if there are key psychological risk indicators for autism in a random population study of children at 18 months of age; and to assess how well these discriminate children who receive a diagnosis of autism from other forms of developmental delay. METHOD: Sixteen thousand children in the southeast of England were screened for autism by their health visitor or GP, during their routine 18-month-old developmental check-up, using the CHAT (Checklist for Autism in Toddlers). From a previous high-risk study we predicted that children at 18 months of age who failed three items ('protodeclarative pointing', 'gaze-monitoring', and 'pretend play') would be at risk for receiving a diagnosis of autism. From other evidence, we further predicted that those 18-month-olds who failed one or two of the key items (either pretend play, or protodeclarative pointing and pretend play) would be at risk for developmental delay without autism. RESULTS: Twelve children out of the total population of 16,000 consistently failed the three key items. Of these, 10 (83.3%) received a diagnosis of autism. Thus, the false positive rate was 16.6% (2 out of 12 cases), and even these 2 cases were not normal. When the 10 children with autism were reassessed at 3.5 years of age, their diagnosis remained the same. Thus the false positive rate among the cases diagnosed with autism was zero. In contrast, of 22 children who consistently failed either protodeclarative pointing and/or pretend play, none received a diagnosis of autism, but 15 (68.2%) received a diagnosis of language delay. CONCLUSIONS: Consistent failure of the three key items from the CHAT at 18 months of age carries an 83.3% risk of autism; and this pattern of risk indicator is specific to autism when compared to other forms of developmental delay.

Autistic Disorder↗

PubMed2003

Preschool children with autism spectrum disorders in Taiwan: follow-up of cognitive assessment to early school age.

In this study, we longitudinally followed into childhood a cohort of preschool children, initially diagnosed as autistic or non-autistic with developmental delay, to evaluate the stability of cognitive assessments performed during the preschool period. The consistency in group means and intra-individual stability of developmental quotients (DQ) and non-verbal intelligence quotients (IQs) were compared for these two groups, which were matched by chronological age, initial non-verbal IQ/DQs, initial test given, and length of follow-up interval. The case group comprised 16 autistic children with average age at initial assessment of 3 years 8 months. The control group comprised 16 non-autistic developmental delayed children with average age at initial assessment of 3 years 11 months. Mean DQ/non-verbal IQ at initial assessment was 73.9+/-23.9 for the case group and 80.3+/-23.2 for the control group. ANOVA yielded no significant effect of time or time x diagnosis interaction (F=0.183, P=0.675). The absolute difference in scores and group means were equivalent for both groups of children, with no difference in patterns of change. Correlations between DQ/non-verbal IQs at initial assessment and follow-up were significant and high for the two groups (autistic group: r=0.87; control: r=0.77). Intellectual functioning can be a valid measure in Taiwanese preschool children with autism, and has an equivalent meaning for children with autism and for non-autistic children with developmental delay. Though the follow-up period is too short for definite prognostic conclusions to be drawn, we think that non-verbal intelligence should be an essential assessment for preschool oriental autistic children so that sound expectation and treatment plan can be made.

Autistic Disorder↗

PubMed1997

Infants with autism: an investigation of empathy, pretend play, joint attention, and imitation.

Systematic studies of infants with autism have not been previously carried out. Taking advantage of a new prospective screening instrument for autism in infancy (S. Baron-Cohen et al., 1996), the present study found that, compared with developmentally delayed and normally developing children, 20-month-old children with autism were specifically impaired on some aspects of empathy, joint attention, and imitation. Infants with autism failed to use social gaze in the empathy and joint attention tasks. Both the infants with autism and the infants with developmental delay demonstrated functional play, but very few participants in either group produced spontaneous pretend play. In the developmental delay group, but not the autism group, pretend play was shown following prompting. The implications of these findings for developmental accounts of autism and for the early diagnosis of the disorder are discussed.

Analysis of Variance↗

PubMed2001

Heterologous expression and characterization of a rare Gaucher disease mutation (c.481C > T) from a Canadian aboriginal population using archival tissue samples.

Gaucher disease is an inherited sphingolipidosis resulting from deleterious mutations in the glucocerebrosidase gene. Through direct sequence analysis of genomic DNA from whole blood, fibroblast cultures, and formalin-fixed archival tissue samples, we have identified a rare homozygous C > T transition at cDNA nucleotide 481 of the glucocerebrosidase gene that results in a proline to serine amino acid substitution (p.P122S) in an aboriginal family of Cree descent in northern Alberta, Canada. A 13-month-old boy (JB) presented with severe visceral Gaucher disease and was treated with enzyme replacement. Currently, at 11 years he is developmentally delayed, with oculomotor apraxia. A cousin (MS) had previously died at age 7 from complications of severe Gaucher disease, before enzyme replacement therapy was available. She was also developmentally delayed. Heterologous expression of this allele using a baculovirus expression system revealed 19.2% of normal enzyme activity on the artificial substrate 4-methylumbelliferyl beta-d-glucopyranoside (4MUGP). Genotype/phenotype correlation is complicated by incomplete clinical details, enzyme replacement therapy, and the difficulty in excluding other genetic and environmental causes of developmental delay. However the development of oculomotor apraxia in JB suggests a Type 3 Gaucher phenotype. The only previous report of this mutation was also from a member of the Cree Nation, who has had a rather similar clinical course. A protocol is described for the isolation of genomic DNA from formalin-fixed bone marrow aspirate archival specimens obtained from the deceased for subsequent PCR-based sequence analysis and mutation detection. This technique will be applicable to the screening of this and other populations for the frequency of known Gaucher mutations where traditional DNA sources are unavailable.

Adolescent↗

PubMed1987

Reduced optimality as an indicator of developmental status at 18 months and school achievement at 8 years.

Birth records of 97 children assessed at 18 months and found to be developmentally delayed were scored according to the optimality concept developed by Prechtl. These children were compared to a control series of 81 children. In order to evaluate the predictive validity of the parental developmental assessments performed at 18 months the children had been screened for school achievement problems at the age of eight years, yielding a distribution of true and false positives and true and false negatives. Rates of reduced optimality were compared to investigate firstly, the relationship between reduced optimality and developmental delay at 18 months and secondly, whether the follow-up distribution of true and false positives at eight years could be related to reduced optimality. The overall relationship between reduced optimality and developmental delay at 18 months and reduced optimality and school achievement problems at eight years was also investigated. The 15 low scoring cases registered as mentally retarded differed significantly from controls on total mean reduced optimality. Retarded and non-retarded low-scorers differed significantly on post partum sub-scores only. When the eight-year follow-up groups were compared both retarded and non-retarded true positives differed significantly from true negatives on total mean reduced optimality. The difference in post-partum reduced optimality between retarded and all other follow-up groups but non-retarded true positives reached statistical significance.(ABSTRACT TRUNCATED AT 250 WORDS)

Child↗

PubMed1999

Chromosome 22q11 deletion syndrome: the first three cases reported in Thailand.

The DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes were originally described as separate disorders due to different concerns regarding phenotypes. However, all these disorders have some common clinical manifestations, including congenital heart defect, facial anomaly, and developmental delay. It is now clear that most cases of these syndromes have a common cause resulting from microdeletion of chromosome 22q11. This study reports the first three cases of Thai children presented with developmental delays. All are females who were known cases of congenital heart diseases. Their minor facial anomalies were subtle and not previously recognized as of any syndromes. The chromosome study by fluorescent in situ hybridization technique yielded microdeletion of chromosome 22q11. Without known prevalence in Asian populations, except in Japanese children, further study for chromosome 22q11 deletion syndrome in Asian children with conotruncal heart defects, who also have minor facial anomalies or developmental delays, should be undertaken.

Child↗

PubMed2004

Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5).

The use of subtelomeric FISH probes has greatly supplemented conventional chromosome analysis in detecting cryptic anomalies in patients with mental retardation (MR), dysmorphic features, and congenital malformations. We report a 3-month-old boy who was diagnosed with ambiguous genitalia, dysmorphic features, and developmental delay. Standard chromosome studies on blood revealed a chimeric karyotype of 46,XY,t(4;5)(q31.1;q14)[46]/46,XX[4]. The boy had intra-abdominal gonads that were testicular in origin by biopsy. Multiple dysmorphic features, marked hypotonia, developmental delay, poor growth, and relative macrocephaly were noted on physical exam. His 2.5-year-old sister also presented with hypotonia, developmental delay, relative macrocephaly, and similar dysmorphic stigmata. In addition, she was diagnosed with several internal malformations. Her karyotype was 46,XX. Due to the striking phenotypic similarity, subtelomeric FISH studies were initiated in the siblings. In addition to the known balanced karyotypic abnormalities, the boy was found to have a derivative chromosome 5 with a 5pter deletion and a 17pter duplication. This cryptic abnormality was also detected in his sister. Chromosome analysis of the father revealed a subtle balanced t(5;17)(p15.31;p13.1) which was confirmed by subtelomeric FISH, whereas the mother's chromosome complement was normal. This familial constellation illustrates the usefulness of subtelomeric FISH in the diagnosis of cryptic chromosome abnormalities in patients for whom conventional karyotype does not disclose findings sufficient to explain the observed phenotypic anomalies.

Child, Preschool↗