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We present a girl with ring chromosome 16. Clinical abnormalities included developmental delay, short stature, and minor facial anomalies. Analysis of the glutamate-pyruvate transaminase (GPT) phenotype suggests the possible exclusion of the GPT locus expressed in erythrocytes (GPT) from the very distal p13 region of chromosome 16.
The needs that were created or intensified for 36 low-income mothers in the first years after learning that they were the parents of a developmentally delayed child were investigated, and intervention strategies to help these mothers get their special needs met were identified. Results suggest that the overwhelming need of these mothers was to learn how to cope with the many unknowns about their child's future and that an effective intervention strategy might be the establishment of groups run by and for parents in conjunction with early intervention programs for the children.
Relevant journals were reviewed (n = 23) for a 20 year period (1967 to 1987) to assess the status of treatments for severe behavior problems of developmentally delayed persons. A hand search of journals was made; 382 studies were identified. Procedures were analyzed by problem behaviors treated, side effects reported, whether the procedure involved painful stimuli, nonpainful stimuli, food satiation, positive procedures, extinction or combinations of methods. The number of studies reported yearly was also plotted. The implication of these data for federal and state policy makers and for treatment programs dealing with difficult to treat clients is discussed.
The purpose of this longitudinal study was to determine whether the reported parallels between symbolic play and normal language development were evidenced in 6 children with developmental delays of varying etiologies. Subjects' play and language behavior over a 6-month period was videotaped and analyzed during free play and modeling tasks. Although results supported the correspondences previously reported between normal language development and symbolic play, the variability across observations in the present subjects was more marked than expected. Implications for clinical assessment are discussed.
The present investigation demonstrated a systematic teaching procedure for establishing a normal toddler as a peer-model for three children showing delayed development, each one under 27 mo. of age. For each delayed subject, training consisted of adult-directed prompting and social reinforcement contingent upon the delayed children's imitations of material use and motor responses emitted by a normal peer. Within-subjects multiple-baseline designs across responses were used to demonstrate intrasubject control over imitative responding. Indices of stimulus and response generalization were assessed through having the peer-model present the trained responses along with untrained responses in a situation free of adult prompting and social reinforcement for imitative responding. Results indicated that the training in peer-imitation was successful for establishing the peer-model's behavior in a stimulus control relationship with the imitative responding of the delayed children. Moreover, the findings generally demonstrated transfer of training across stimulus situations and responses. Implications for educational programming with developmentally delayed children are discussed.
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.
A pilot study was performed with 13 children, 1 to 4 yr. of age, to explore an heretofore uninvestigated area. The effect of passive tactile stimulation was an increase in muscle activation and hence the muscle tone of 13 hypotonic, developmentally delayed children.
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.
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.
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.
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.
We obtained chart reviews and parent surveys for 75 autistic children to understand better how they, and other children with uneven or unusual behavioral development, are identified and diagnosed. Our goal was to determine when parents became concerned about developmental delay, what concerns they expressed, to whom they expressed them, when evaluations were made, what kinds of evaluations were carried out, and which diagnostic models were most effective. We found that, most often, parents expressed their initial concerns to pediatricians, noting both language and social delays by the time their child was 1 1/2 years old; they began diagnostic evaluations when their child was around 2 1/2 years old, and received diagnoses of autism at around 4 1/2 years. These results are discussed in terms of the role of the child's primary care physician in improving early identification, and placement into early intervention programs. The relationship between problems in the diagnosis of autism and other developmental disabilities is considered.
We report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, microcephaly, minor facial anomalies reminiscent of a mild Brachmann-de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics. The syndrome, which seems to be inherited as an autosomal dominant trait with variable expressivity, resembles mild BDLS.
Over 19 lunar months reports of all aggressive acting-out misbehaviors as recorded by direct-care staff were evaluated and recorded on a day-by-day basis for a randomly selected sample of 20 developmentally delayed women, CA 18 to 50; MA, 9 to 18 months. All had been in continuous residence in a residential treatment center for a minimum of 31 months. A grid representing the 24-hr. period of the full moon (a), the three days prior to the day of the full moon (b), the three days after the full moon (c), and the balance of the lunar period (d) was placed over the record. Comparisons using the Duncan multiple-range test indicated that the mean number of misbehaviors on the day of the full moon was significantly higher than the mean number on any other day of the lunar period (the next highest was for the three days prior to the day of the full moon).
The authors report a survey of 50 parent-child pairs from homeless families housed in New York City hotels. The purpose of the survey was to determine the extent of emotional or behavioral disturbances and of developmental delays in homeless children aged 4 through 10 years, the presence of depression or a history of depression or other psychiatric problems in the parents of these children, and to determine whether the children and adults had mental health needs. The results indicate that nearly all of the children showed some difficulties. Sixty-one percent of the children had receptive verbal functioning at or below the first percentile for age, 29% were functioning at the fifth percentile for age in psychomotor ability, and 38% exhibited emotional and behavioral problems. Twenty-eight percent of the parents exhibited evidence of mild to severe depression; a smaller percentage admitted to past psychiatric problems.
C. Del Greco, M. E. Kuo, D. E. C. Smith, M. I. Mendes, G. S. Salamons, M. Nemcovic, R. Kodrikova, S. Sestak, M. Stancheva, and A. Antonellis, "Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype," Molecular Genetics & Genomic Medicine 13, no. 2 (2025): e70078, https://doi.org/10.1002/mgg3.70078. The above article, published online on 18 February 2025 in Wiley Online Library (https://onlinelibrary.wiley.com/), has been retracted by agreement between the authors; the journal Editor-in-Chief, Paraminder Dhillon; and Wiley Periodicals, LLC. The retraction has been agreed upon due to the lack of appropriate authorization for the publication of the CARS1 variants related to the specific patient described in this clinical report. In addition, written consent for publication was not obtained from the child's legal guardian.
Offspring of rats who were zinc or calorie deprived during lactation were administered a battery of reflex and motor tests from postnatal Day 4 to Day 21. Compared to offspring of ad lib-fed control rats, both zinc deprived and undernourished offspring exhibited developmental delays in reflexes which appeared after the first postnatal week (auditory startle, air righting, and rope descent). As the deficiencies continued the delays appeared to be more pronounced. The zinc deficiency did not add to the deficits associated with calorie restriction alone because there were no significant differences between the zinc deficient and undernourished pups on any of the measures except eye opening. When rehabilitated offspring were tested at 45 and 60 days of age for motor deficits there were no significant impairments resulting from preweaning dietary conditions. However, the growth retardation of zinc deprived and undernourished rats persisted long after dietary rehabilitation was implemented.
A young boy showed features of Prader-Willi syndrome including hypotonia, cryptorchidism, a mildly dysmorphic facial appearance, a high-arched palate and an open triangular-shaped mouth, but had additional symptoms such as simian creases and multiple joint ankylosis in early infancy. Deletion of the long arm of chromosome 15(q11.2 to q13) was recognized. A muscle biopsy specimen showed variation in fiber size with hypertrophic type 1 fibers, type 2 fiber smallness, type 2B fiber paucity and an increased number of type 2C fibers. At the age of 4 1/2 years, he still showed severe developmental delay with severe muscle hypotonia, weakness and emaciation.