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Results for “Developmental delay”

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PubMed2004

Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.

An 11-year-old boy was evaluated for progressive ataxia, cognitive deterioration, and ophthalmoplegia. The child initially presented with abnormal eye movements at the age of 2 months and was noted to have developmental delay at 6 months. At the age of 7 years, he developed ataxia and cognitive impairment, and subsequently manifested dysphagia and incontinence. The pertinent family history included gait difficulty in the paternal grandmother. At the age of 11, his general physical examination was normal. On neurological examination, he had bilateral external ophthalmoplegia, ataxic dysarthria, dysmetria and tremor in the upper extremities, and marked gait ataxia. An ophthalmological evaluation showed no evidence of pigmentary retinopathy. Brain MRI demonstrated cerebellar, brainstem, and cerebral atrophy. An ataxia panel showed 62 repeats in one allele of the SCA2 gene. Most cases of spinocerebellar ataxia type 2 (SCA2) present between 20 years and 40 years, and affected individuals typically have between 34 and 57 CAG repeats. Neonatal cases of SCA2 have been reported in individuals with over 200 CAG repeats. Childhood SCA2 has been reported previously in two patients but not described clinically. This case broadens the spectrum of the clinical features of infantile-onset SCA2 and highlights the importance of considering this diagnosis in infants and children.

Ataxins↗

PubMed1988

How children with autism are diagnosed: difficulties in identification of children with multiple developmental delays.

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.

Adolescent↗

PubMed2006

Cognitive-behavioral treatment for specific phobias with a child demonstrating severe problem behavior and developmental delays.

Cognitive-behavioral treatments (CBTs) are widely used for anxiety disorders in typically developing children; however, there has been no previous attempt to administer CBT for specific phobia (in this case study, one-session treatment) to developmentally or intellectually disabled children. This case study integrates both cognitive-behavioral and behavior analytic assessment techniques in the CBT of water and height phobia in a 7-year-old male with developmental delays and severe behavior problems. One-session treatment [Ost, L. G. (1989). One-session treatment for specific phobias. Behaviour Research and Therapy, 27, 1-7; Ost, L. G. (1997). Rapid treatment of specific phobias. In G. C. L. Davey (Ed.), Phobias: A handbook of theory, research, and treatment (pp. 227-247). New York: Wiley] was provided for water phobia and then 2 months later for height phobia. The massed exposure therapy sessions combined graduated in vivo exposure, participant modeling, cognitive challenges, reinforcement, and other techniques. Both indirect and direct observation measures were utilized to evaluate treatment efficacy. Results suggested CBT reduced or eliminated behavioral avoidance, specific phobia symptoms, and subjective fear. Negative vocalizations were reduced during height exposure following treatment. Vocalizations following treatment for water phobia were less clear and may have been indicative of typical 7-year-old protests during bath time. Findings indicate CBT can be effective for treating clinical fears in an individual with developmental disabilities and severe behavior. Future research in this population should examine CBT as an alternative to other techniques (e.g., forced exposure) for treating fears.

Child↗

PubMed2004

Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.

Purine nucleoside phosphorylase deficiency is a primary immunodeficiency syndrome characterized by the triad of recurrent infection, neurologic dysfunction, and autoimmunity. This patient presented atypically with few infections and normal T-cell function. Progressive lymphopenia, ataxia, and developmental delay led to diagnosis. Umbilical cord blood transplantation corrected the immunodeficiency.

Cord Blood Stem Cell Transplantation↗

PubMed2005

Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay.

To date, most ring formations of chromosome 4 lose distal 4p and usually include the Wolf-Hirschhorn syndrome region [WHS]. We describe a case with r(4) in a girl who presented without features of WHS; she had mild developmental delay, deafness, short stature, obesity, and the onset of type 2 diabetes in adolescence, a distinctive phenotype. Although 4p was significantly deleted on Giemsa banding, the 4p junction was distal to the WHS and FGFR3 but proximal to the D4S3360 marker. The 4q breakpoint was close to the telomere. The phenotype appears different from previous patients with 4p- or r(4), which have had more extensive 4p deletion.

Abnormalities, Multiple↗

PubMed2003

Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay.

We report on a 6.5-year-old girl with a balanced translocation between the short arms of chromosomes 1 and 6. She was referred for genetics evaluation because of developmental speech delay and congenital absence of several deciduous and permanent teeth. She was very sensitive to noise (hyperacusis), had poor hair and nail growth, decreased sweating, and turned very red with high fever. She had microcephaly (head circumference at the second centile; weight and height were at 25th centile), short palpebral fissures, epicanthal folds, sparse eyelashes, large ears, partial anodontia, short finger and toenails, and dry skin. She had mild developmental delay. Family history was significant for learning problems in two paternal uncles, one paternal aunt, and several paternal cousins. Thyroid studies, calcium, phosphorus, and alkaline phosphatase levels were normal. Her karyotype was 46,XX,t(1;6)(p22.1;p22.2), and parental karyotypes were normal. This apparently balanced translocation may have resulted in either a submicroscopic loss or disruption of a gene or genes involved in ectodermal dysplasia. There are no reported cases of ectodermal dysplasia associated with this chromosome rearrangement.

Anodontia↗

PubMed1992

Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome?

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.

Adult↗

PubMed1991

Effect of the full moon on a sample of developmentally delayed, institutionalized women.

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).

Adult↗

PubMed1990

Psychopathology and developmental delay in homeless children: a pilot study.

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.

Adult↗

PubMed2002

Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.

DYRK1A is the human orthologue of the Drosophila minibrain (mnb) gene, which is involved in postembryonic neurogenesis in flies. Because of its mapping position on chromosome 21 and the neurobehavioral alterations shown by mice overexpressing this gene, involvement of DYRK1A in some of the neurological defects of Down syndrome patients has been suggested. To gain insight into its physiological role, we have generated mice deficient in Dyrk1A function by gene targeting. Dyrk1A(-/-) null mutants presented a general growth delay and died during midgestation. Mice heterozygous for the mutation (Dyrk1A(+/-)) showed decreased neonatal viability and a significant body size reduction from birth to adulthood. General neurobehavioral analysis revealed preweaning developmental delay of Dyrk1A(+/-) mice and specific alterations in adults. Brains of Dyrk1A(+/-) mice were decreased in size in a region-specific manner, although the cytoarchitecture and neuronal components in most areas were not altered. Cell counts showed increased neuronal densities in some brain regions and a specific decrease in the number of neurons in the superior colliculus, which exhibited a significant size reduction. These data provide evidence about the nonredundant, vital role of Dyrk1A and suggest a conserved mode of action that determines normal growth and brain size in both mice and flies.

Animals↗

PubMed2026

RETRACTION: Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.

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.

Journal Article↗

PubMed2001

Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?

We report a 6-year-old male of first cousin parents with the unique constellation of frontal bossing with brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, hypoplastic nipples, rudimentary unilateral post-axial polydactyly of the hand, failure to thrive, mild to moderate developmental delay and sociable personality. Knoblock-Layer syndrome and Smith-Lemli-Opitz syndrome were considered in the differential diagnosis and were excluded. No similar cases were found in LDDB or other databases.

Abnormalities, Multiple↗

PubMedDate not supplied

Consultation in paediatric rehabilitation for behaviour problems in young children with cerebral palsy and/or developmental delay.

To measure the effectiveness of consultation for behaviour problems in a paediatric rehabilitation setting, this paper used longitudinal assessment of children who received the intervention through their regularly scheduled appointments with their Occupational Therapist (OT), Physical Therapist (PT) or Speech and Language Pathologist (SLP) at three paediatric rehabilitation clinics in Columbia, South Carolina. The participants were 86 children with cerebral palsy (CP), developmental delay (DD) and medical conditions, ages 1-6 years, and their families. The intervention consisted of monthly meetings between rehabilitation therapists and a team consisting of a Child Psychiatrist, Developmental Pediatrician, Psychologists and a Preventive Medicine specialist. There were statistically significant improvements in the sub-scales of the Vineland adaptive skills assessment and the measures of family stress associated with the parent's attitude toward the child with a disability. The magnitude of the improvement was greatest for children with Mental Development Indices (MDI) less than 50. This assessment of young children with disabilities demonstrates the effectiveness of a consultation model in improving adaptive behaviour and parent attitude about their child.

Cerebral Palsy↗

PubMed2001

New syndrome characterized by sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay.

A brother and a sister show very similar clinical features, including sparse hair in the first year of life, prominent nose, small mouth, micrognathia, high arched palate or cleft palate, crumpled upper helices, flexion limitation of the distal interphalangeal joint of the fingers, and mild developmental delay. Their clinical appearance suggests a premature aging phenotype, but is not really compatible with the hitherto known syndromes of that group. The mode of inheritance is likely autosomal recessive.

Abnormalities, Multiple↗

PubMed2006

Screening for developmental delay in the setting of a community pediatric clinic: a prospective assessment of parent-report questionnaires.

OBJECTIVES: Our goal for this study was to prospectively test whether parent-completed questionnaires can be effectively used in the setting of a busy ambulatory pediatric clinic to accurately screen for developmental impairments. Specific objectives included (1) assessing the feasibility of using parent-report instruments in the setting of a community pediatric clinic, (2) evaluating the accuracy of 2 available screening tests (the Ages and Stages Questionnaire and Child Development Inventory), and (3) ascertaining if the pediatrician's clinical judgment could be used as a potential modifier. METHODS: Subjects were recruited from the patient population of a community clinic providing primary ambulatory pediatric care. Subjects without previous developmental delay or concerns noted were contacted at the time of their routine 18-month-old visit. Those subjects who agreed to participate were randomly assigned to 1 of 2 groups and completed either the Ages and Stages Questionnaire or Child Development Inventory. The child's pediatrician also completed a brief questionnaire regarding his or her opinion of the child's development. Those children for whom concerns were identified by either questionnaire underwent additional detailed testing by the Battelle Development Inventory, the "gold standard" for the purposes of this study. An equal number of children scoring within the norms of the screening measures also underwent testing with the Battelle Development Inventory. RESULTS: Of the 356 parents contacted, 317 parents (90%) agreed to participate. Most parents correctly completed the Ages and Stages Questionnaire (81%) and the Child Development Inventory (75%). Predictive values were calculated for the Ages and Stages Questionnaire and the Child Development Inventory (sensitivity: 0.67 and 0.50; specificity: 0.39 and 0.86; positive predictive value: 34% and 50%; negative predictive value: 71% and 86%, respectively). Incorporating the physician's opinion regarding the developmental status of the child did not improve the accuracy of the screening questionnaires. CONCLUSIONS: Three important conclusions were reached: (1) parent-completed questionnaires can be feasibly used in the setting of a pediatric clinic; (2) the pediatrician's opinion had little effect in ameliorating the accuracy of either questionnaire; and (3) single-point accuracy of these screening instruments in a community setting did not meet the requisite standard for development screening tests as set by current recommendations. This study raises important questions about how developmental screening can be performed, and we recommend additional research to elucidate a successful screening procedure.

Ambulatory Care Facilities↗

PubMed1994

Comparison of individual and group/consultation treatment methods for preschool children with developmental delays.

OBJECTIVES: Although alternative treatment methods are becoming more widely discussed and implemented in pediatric occupational therapy, empirical data demonstrating the effectiveness of these treatment methods are lacking. The present study compares the effectiveness of an alternative treatment method (group/consultation) to traditional direct therapy. METHOD: Eighteen preschool subjects classified as developmentally delayed received either individual/direct therapy or group/consultation therapy. Each child was assessed initially and again 7 months later with three standardized tests assessing fine motor and gross motor development, functional skills in the home, and nonverbal intelligence. RESULTS: Subjects in both treatment methods demonstrated significant increases in both fine and gross motor skills with the rate approximating that of the normal distribution of typically developing children. CONCLUSION: There were no statistically significant differences between treatment methods on any of the assessments.

Analysis of Variance↗

PubMed1997

Differences in social signals produced by children with developmental delays of differing etiologies.

Clarity of referential looks (either a focus on parent's face or other focus) produced by preschool children with delays of differing etiologies and children without delays was examined. Adults (with and without experience with children with delays) viewed videotaped segments in which children's looks did or did not occur. Adults judged whether a look occurred and rated their confidence in each judgment; latency to respond was measured. Adults' experience with children with delays did not influence outcome measures. When viewing looks focusing on parents' faces, participants were more accurate and more confident judging looks by children with typical development, less accurate when viewing face-directed looks of children with developmental delays, and least accurate when viewing children with Down syndrome. Discriminability of social looks differed by etiological group, and judges' decision criteria, confidence, and speed of responding also differed.

Adult↗

PubMed2005

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

Deficiencies of different proteins involved in copper metabolism have been reported to cause human diseases. Well-known syndromes, for example, are Menkes and Wilson diseases. Here we report a patient presenting with congenital cataract, severe muscular hypotonia, developmental delay, sensorineural hearing loss and cytochrome-c oxidase deficiency with repeatedly low copper and ceruloplasmin levels. These findings were suggestive of a copper metabolism disorder. In support of this, the patient's fibroblasts showed an increased copper uptake with normal retention. Detailed follow-up examinations were performed. Immunoblotting for several proteins including ATP7A (MNK or Menkes protein), ATP7B (Wilson protein) and SOD1 showed normal results, implying a copper metabolism defect other than Wilson or Menkes disease. Sequence analysis of ATOX1 and genes coding for proteins that are known to play a role in the mitochondrial copper metabolism (COI-III, SCO1, SCO2, COX11, COX17, COX19) revealed no mutations. Additional disease genes that have been associated with cytochrome-c oxidase deficiency were negative for mutations as well. As beneficial effects of copper histidinate supplementation have been reported in selected disorders of copper metabolism presenting with low serum copper and ceruloplasmin levels, we initiated a copper histidinate supplementation. Remarkable improvement of clinical symptoms was observed, with complete restoration of cytochrome-c oxidase activity in skeletal muscle.

Adenosine Triphosphatases↗