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PubMed1992

Weekends and holidays and acting-out behavior of developmentally delayed women: a reply to Dr. Mark Flynn.

A previous report on the effect of the day of the full moon on the acting-out behavior of 20 developmentally delayed, institutionalized women showed that on the day of the full moon there were significantly more misbehaviors than on any other day during the lunar period. The records were re-evaluated to assess the frequency of acting-out behaviors on weekends and holidays as contrasted with the balance of the month. This re-evaluation indicated there was no significant difference between the weekends and holidays and the balance of the month (t = 1.14). The results were taken as support of the previous findings that on the day of the full moon there were significantly more misbehaviors than on any other day of the lunar period.

Acting Out↗
PubMed1993

Distinctive autosomal or X-linked dominant syndrome of microcephaly, mild developmental delay, short stature, and distinctive face.

We report on a mother and two sons with a syndrome of microcephaly, short stature, a distinctive face, broad thumbs and great toes, and mild developmental delay. There are similarities to the patients reported by Bawle and Horton [Am J Med Genet 33:382-384, 1989] and Evans [Clin Genet 39:178-180, 1991] but it is not certain whether the patients have the same condition. Inheritance could either be autosomal or X-linked dominant.

Adult↗
PubMed1992

Risk factors for developmental delay among infants and toddlers.

Definitions of risk, types of risk factors used in longitudinal studies of the development of infants and toddlers (0-3 years), and the predictive power of risk models in assessing developmental delays are reviewed. Biologic factors in combination with environmental risk factors give the best prediction of long-term outcome. When biological or environmental risk factors are examined independently, they are not powerful predictors. Recommendations are made for repeated screening for developmental risk factors during the first 3 years, and a model for provision of services is presented that assumes a differential risk algorithm.

Child, Preschool↗
PubMed2000

A clinical checklist for fragile X syndrome: screening of Thai boys with developmental delay of unknown cause.

The aim of this study was to determine a cost-effective clinical checklist for fragile X syndrome (FXS) screening in a Thai male pediatric population with developmental delay of unknown cause. We studied 179 non-FXS male patients and 27 FXS patients from 18 families (age < or = 15 years). A six-item clinical checklist was used including family history (FH), long and narrow face (F), prominent and large ears (E), attention deficit/hyperactivity (AH), autistic-like behavior (AT) and testicular volume (T). These were scored as 0 if absent, 1 if borderline, and 2 if present. All patients were tested by using PCR and/or southern blot for the FMR1 gene. We used a logistic regression model from a computer program to analyze the data (Stata, version 5.0). We used logistic regression with cluster in the same family (average score) to eliminate bias from the related FXS cases. We found that a five-item checklist, 2FH + F + 0.5E + 2AH + T = total score, was the best model. When we used this clinical checklist with a threshold of total score of 4, 78.7 per cent of the screened cases with total scores < or = 4 could be eliminated as negative cases. In addition, all positive FXS cases had total scores > 4. We propose this five-item model for FXS screening in clinical pediatric practice, particularly from Asian population settings.

Adolescent↗
PubMed1991

Approaches to the prediction of language abilities in a sample of children who have developmental delays.

Prediction of the quality of language was explored using planned comparisons of three approaches, one cognitive, one neurodevelopmental, and one a combination of the two. Subjects were 37 children, ages 5-9 years, whose significant developmental delays included language and speech skills. The cognitive predictors were mental age (MA) and IQ from the Stanford-Binet Intelligence Scale. Neurodevelopmental predictors consisted of fine motor skill quotients (MQs) and dichotic speech processing scores. Chronological age (CA) was also evaluated as a predictor. A composite language ability score constituted the dependent variable. Results of regression analyses showed that CA and MQ, and MA and MQ, were nearly equal in their predictive strengths and were substantial predictors of composite language scores. Larger multiple correlations (low .8 range) were found when combinations of MA, IQ, and MQ or CA, IQ, and MQ were used as predictors. Statistical control over the 4-year age range revealed that approximately equal amounts of prediction of language scores were attributable to CA and a combination of MA, IQ, and MQ. Each of the latter variables contributed important amounts of unique variance to the language score prediction. Dichotic ear scores did not relate to cognitive or language scores and were ineffectual as predictors in regression analysis. Results indicated that children of the type studied have language and speech delays that show substantial relationships to their verbal cognitive abilities and MQs, in addition to their CAs.

Age Factors↗
PubMed2001

Can the checklist for autism in toddlers differentiate young children with autism from those with developmental delays?

OBJECTIVE: The Checklist for Autism in Toddlers (CHAT) has been demonstrated to be sensitive to the presence of autism in otherwise normally developing 18-month-old children. However, its ability to differentiate autism from other significant developmental delays is unknown. This study examined this question. METHOD: The CHAT was applied to a group of 44 children aged 2 and 3 years, rigorously diagnosed with autism or with other developmental problems. RESULTS: By the original CHAT authors' criteria, the sensitivity and specificity of the CHAT were 65% and 100%, respectively. Slightly altering the criteria resulted in a sensitivity of 85% in the current group of children with developmental disabilities while maintaining specificity of 100%. CONCLUSIONS: The current study is the first to demonstrate that the CHAT successfully discriminates 2-year-old children with autism from those with other developmental disorders. In addition, the increased sensitivity of the Denver Criteria in children with developmental disabilities may improve its usefulness as a screening tool for community-based early-diagnostic teams and general practitioners.

Autistic Disorder↗
PubMed2005

De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay.

We have applied FISH with fully integrated BACs and BAC subfragments assessed in the human genome sequence to a de novo t(7;10)(q33;q23) translocation in a patient with developmental delay and macrocephaly. The translocation breakpoints disrupt the SEC8L1 gene on chromosome 7 and the PTEN gene on chromosome 10. RT-PCR demonstrated chimeric transcripts containing the first 11 exons of SEC8L1 fused to exon 3 of PTEN. In addition to the balanced translocation, we found a 7-Mb deletion in the translocated part of chromosome 7 at 4-Mb distance of the translocation breakpoint. This microdeletion, which disrupts the PTN and TPK1 genes and deletes 29 bonafide genes and the T-cell receptor beta locus, arose in the paternal germline. The patient's phenotype may be caused by a dominant-negative effect of the SEC8L1-PTEN fusion protein and/or haploinsufficiency of the disrupted or deleted genes. Our study demonstrates that de novo translocations can be associated with microdeletions outside the breakpoint region(s), rendering the study and risk estimation of such breakpoints more complicated than previously assumed.

Abnormalities, Multiple↗
PubMed2000

Predicting language outcomes for young prelinguistic children with developmental delay.

The purpose of this study was to examine potential relationships between children's prelinguistic communication behaviors and subsequent (12 months later) expressive and receptive language outcomes. Participants included 25 toddlers with developmental delay and their mothers. The dyads were observed during natural interactions at 6-month intervals over a 12-month period for a total of 3 observation points (O1, O2, O3). Children's rate of nonverbal behavior that is often perceived as communication by adults was identified at O1 and O2. In the investigation, the children's intentional nonverbal communication acts all included coordinated attention between the communication referent and the adult. The other types of prelinguistic communication behavior, termed gestural indicating behavior and social interaction signals, were produced without coordinated attention to the adult. Receptive and expressive language test scores and spontaneous word productions were analyzed at O3 and served as outcome measures in regression analyses. Results indicated that rate of intentional nonverbal communication at O1 was a predictor of spontaneous word productions at O3. At O2, rate of intentional communication and rate of gestural indicating behavior predicted subsequent language outcomes as measured by the Sequenced Inventory of Communication Development-Revised. The results are consistent with previous findings for intentional nonverbal communication that includes coordinated attention, but additionally demonstrate that prelinguistic behavior lacking coordinated attention also bears a relationship to subsequent language outcome. Discussion of observed patterns focuses on child and adult factors that may motivate the transition from prelinguistic to early symbolic communication.

Child Language↗
PubMed1995

FRAXE expansion is not a common etiological factor among developmentally delayed males.

Expansion of a (CGG)n trinucleotide repeat unit at FRAXE, a newly defined fragile site distal to FRAXA, at Xq28, is reported to be associated with mild mental retardation. Three hundred developmentally delayed male patients referred for fragile X testing but negative for the FMR-1 gene trinucleotide expansion were screened for the FRAXE expansion. This group of patients had a wide range of intellectual or behavioral problems and included 19 patients who had low-level fragile site expression detected cytogenetically at Xq27-q28. None of the patients tested positive for the FRAXE expansion. These results suggest that FRAXE is not a common etiological factor among this group of patients. The data support the hypothesis that FRAXE is either very rare or a benign fragile site that is not associated with any clinical phenotype, similar to the FRAXF and FRA16A sites.

Base Sequence↗
PubMed1991

Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay.

We report on an 11-year experience in which cell culture synchronization and other methods for improving cytogenetic detail were used to study 2,245 patients presenting with malformations and (usually) developmental delay. Not including patients presenting with one of the so-called "contiguous gene syndromes," 30 patients (1.1% of the study population) were found to have karyotypes characterized by structural alterations that were either subtle enough to be judged undetectable in standard metaphase preparations or subtle enough to have escaped detection in previous banded studies. Analysis of the detail available for 6 chromosome pairs suggests that the average banding detail available for these analyses fell short of that considered to be "high-resolution" but was, nevertheless, more than would have been expected from standard metaphase preparations.

Chromosome Banding↗
PubMed1994

Mild growth retardation and developmental delay, microcephaly, and a distinctive facial appearance.

We describe a brother and sister from one family and a girl from a second, unrelated family; they have a syndrome of pre- and post-natal growth deficiency, developmental delay, a friendly personality, microcephaly, and a distinctive facial appearance marked by thick eyebrows, full cheeks, and a short nose with the columella inserted below the nasal alae. We think this is a new syndrome probably inherited as an autosomal recessive trait.

Abnormalities, Multiple↗
PubMed1994

Increased incidence of intraventricular hemorrhage and developmental delay in cocaine-exposed, very low birth weight infants.

This study sought to determine whether very low birth weight (VLBW) infants (< 1500 gm) with fetal cocaine exposure differed from non-cocaine-exposed VLBW infants in incidence of neonatal medical complications and in later developmental outcome. Forty-one cocaine-exposed, VLBW infants, followed in a longitudinal study, were compared with 41 non-cocaine-exposed, VLBW infants of comparable race, social class, age, and incidence of bronchopulmonary dysplasia. Cocaine-exposed infants were identified on the basis of combined findings of maternal and/or infant urine immunoassay and on the basis of maternal self-report. At birth, groups did not differ on medical risk factors except that cocaine-exposed infants had a higher incidence of mild (grades I to II) intraventricular hemorrhage. Cocaine-using women were also more likely to use other drugs, especially alcohol, marijuana, and tobacco. At follow-up, at mean corrected ages of 16.5 +/- 8 months for 30 cocaine-exposed infants and 18.5 +/- 7 months for 37 non-cocaine-exposed infants, standardized assessments of cognitive (Mental Development Index) and motor (Psychomotor Development Index) development were administered. Cocaine-exposed infants had lower mean cognitive (83 +/- 27 vs 91 +/- 19), and motor (85 +/- 25 vs 96 +/- 18) scores; the incidence of developmental delay was significantly higher even after control for the effects of intraventricular hemorrhage and chronologic age. Cocaine-exposed VLBW infants were also more likely to be living with relatives or in foster homes. We conclude that these VLBW, cocaine-exposed infants were at increased risk of intraventricular hemorrhage, were more likely to be placed outside maternal care, and had higher incidences of cognitive and motor delays at follow-up.

Adult↗
PubMed1990

Neonatal cranial ultrasound abnormalities: association with developmental delay at age one in low birth weight infants.

Relationships between abnormalities on neonatal serial cranial ultrasound and cognitive development at age one year were examined in 153 low birth weight (LBW) infants. Infants with complex injury (persistent parenchymal echogenicity, lucency, or persistent ventricular enlargement) scored significantly lower on the Bayley Mental Development Index than noninjured infants. Nine of 11 infants with complex injury had severe developmental delay in contrast to 3/110 of the noninjured. Adjusting for birth weight, gestational age, head circumference and social class, infants with complex injury were 33 times more likely to be severely delayed than noninjured infants. Risk for severe delay associated with LBW appeared to be indirect, through increased probability of ultrasonographic abnormality. The poorest developmental outcome was seen in infants with both complex perinatal brain injury and either very LBW or very young gestational age. However, very LBW infants with normal neonatal ultrasounds were at negligible risk for severe delay at age one.

Birth Injuries↗
PubMed1996

A case-control study of fluctuating dermatoglyphic asymmetry as a risk marker for developmental delay.

In traits which are normally bilaterally symmetrical, asymmetries may arise as a result of genomic or environmental stress. Such asymmetries are called fluctuating asymmetry. Symmetry is known to be decreased in a variety of disorders of developmental origin, and thus could potentially serve as a risk marker for disorders with a developmental component. We examined this idea by conducting a case-control study of 49 developmentally delayed children and 51 controls. Using two dermatoglyphic characters as a measure of symmetry (finger print concordance and A-B triradial ridge count difference), we found odds ratios of 2.32 (95% CI 0.65-3.17) and 2.11 (95% CI 0.57-3.27); depending on which character was measured. These results suggest that fluctuating asymmetry may have potential as a risk marker for developmental disorders, and that this area of research warrants further research.

Case-Control Studies↗
PubMed1989

Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sister.

We report a brother and sister born to non-consanguineous parents. They both had an atrial septal defect and ventricular septal defect. In addition they had short stature, microcephaly, developmental delay, and the same dysmorphic facial appearance of a short nose, epicanthic folds, a long philtrum, and narrow upper lip. The boy had bilateral choanal hypoplasia and stenosis.

Abnormalities, Multiple↗
PubMed1999

Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.

We report on two sibs and two other unrelated patients with agenesis of corpus callosum, oculocutaneous albinism, repeated infections, and cardiomyopathy. All manifested postnatal growth retardation, microcephaly, and profound developmental delay. Additional central nervous system anomalies present in at least one patient included hypoplasia of the cerebellar vermis, white matter neuronal heterotopia, or bilateral schizencephaly. Repeated viral, bacterial, and fungal infections were consistent with a primary immunodeficiency. However, immunological studies showed variable, nonspecific findings. Cardiomyopathy with progressive heart failure or infection led to death before age 2 years in three of the patients. This syndrome was first described by Vici et al. [1988: Am. J. Med. Genet. 29:1-8]. The four patients reported herein confirm this unique disorder. Affected sibs of both sexes born to unaffected parents provide evidence for autosomal recessive inheritance.

Adult↗