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Results for “Developmental delay”

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PubMed1993

An effective community-based approach to the identification of neurodevelopmental delay in childhood.

The contribution of specially trained developmental nurses (DNs) to the accuracy of developmental screening in well-baby units was assessed. Of 13,580 children between two and 48 months of age, the well-baby clinic identified definitive developmental delay in 310, and 357 children were classified as 'questionable'. After DN assessment at 12 months follow-up, only 31 per cent of the questionable group required referral to the Child Development Centre (CDC). Comparison of the original queried recommendations to the CDC with the DN's recommendation indicated a false-positive and -negative rate of 60 and 20 per cent, respectively. This procedure resulted in false-positive and -negative screening accuracies of 1.2 and 6 per cent, respectively, for the total cohort of children screened. The economic and clinical advantages of this model are discussed.

Child Development↗

PubMed1993

Pediatric AIDS: a longitudinal comparative MRI and CT brain imaging study.

Fourteen consecutive children with acquired immune deficiency syndrome (AIDS) (age range, 4 months to 11 years; median 4 years) were studied prospectively comparing nonenhanced cranial magnetic resonance imaging (MRI) and computed tomographic (CT) scans. MRI and CT were performed twice: at time of entry into protocol and again at 1 year. In addition, sequential neurologic (every 2 months) and neuropsychological examinations (every 6 months) were performed. At entry, 12 children had abnormal neurologic examinations; of these, 10 had developmental delay; two children were normal by developmental history and neurologic examination. Five children performed in the normal range on a standardized neuropsychological test, whereas nine children showed significant delays in verbal or motor/perceptual development. Following 1 year of study, four children had normal and six had abnormal neurologic examinations (six stable and four improved). Neuropsychological examinations were normal in five children and abnormal in five (seven stable, one improved, and two deteriorated). At entry, the following neuroradiographic abnormalities were seen: brain parenchymal volume loss (eight, MR = CT), cervical lymphatic enlargement (four, MR = CT), striatal-thalamic calcification (one, CT > MR), delayed myelination (one, MR > CT), and focal white-matter lesions (one, MR > CT). At 1 year the following neuroradiographic changes were seen: brain parenchymal volume loss (10, MR = CT; two improved, eight stable); cervical lymphatic enlargement (one, MR = CT; three improved, one stable), striatal-thalamic calcification (one, CT > MR; one new), and focal white-matter lesions (one, MR > CT; one stable).(ABSTRACT TRUNCATED AT 250 WORDS)

AIDS Dementia Complex↗

PubMed2026

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

The endoplasmic reticulum (ER) serves as a key hub for protein homeostasis, maintaining a strict quality-control system that ensures only properly folded proteins reach their destinations, while misfolded proteins are degraded via ER-associated degradation (ERAD) or selective ER-phagy. JKAMP, which encodes an ER-resident transmembrane protein involved in ERAD, has not previously been associated with human disease. Here, we report bi-allelic loss-of-function variants in JKAMP in 14 affected individuals from 10 unrelated families presenting with a neurodevelopmental syndrome characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features. An in vivo zebrafish model lacking jkamp recapitulated key aspects of the human disorder, including developmental abnormalities and impaired myelin production, further corroborating its pathogenic role. Mechanistic studies identified GPR37, a brain-enriched orphan G protein-coupled receptor (GPCR) and known JKAMP interactor, as a critical downstream effector. GPR37 plays essential roles in dopaminergic signaling, inflammatory pain regulation, neuroprotection, and myelination. Loss of JKAMP resulted in defective folding and degradation of GPR37, leading to its accumulation within the ER and impaired trafficking to the plasma membrane, likely due to impaired ER quality control. These findings establish JKAMP as a previously unrecognized contributor to human neurodevelopment and uncover a pathogenic mechanism linking ER protein quality control to GPCR regulation and neurological disease.

Humans↗

PubMed2007

Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome.

Rhombencephalosynapsis is a rare cerebellar malformation that can be associated with anomalies of the cerebral hemispheres and variable degrees of neurodevelopmental delay. A syndromic association, comprising rhombencephalosynapsis, developmental delay, scalp alopecia and trigeminal anaesthesia (Gomez-López-Hernández syndrome) has been described in seven individuals. We report the case of a 2-year-old boy with rhombencephalosynapsis, and review the evidence for a possible diagnosis of Gomez-López-Hernández syndrome. We also discuss other malformations reported in combination with rhombencephalosynapsis, and consider the possibility that a genetic aetiology for syndromic and nonsyndromic forms of rhombencephalosynapsis may be established with more detailed clinical and genetic studies.

Craniofacial Abnormalities↗

PubMed1984

Development profile of the heat shock response in early embryos of Drosophila.

Drosophila melanogaster embryos reared at 22 degrees C were subjected to a mild heat shock (40 min at 37 degrees C) at various ages in order to determine whether there are changes in the heat shock response during embryogenesis. The effects of the heat shock were measured by assaying (1), subsequent developmental abnormalities (2), developmental time (3), hatchability, and (4), the ability to synthesize the heat shock proteins as assayed by 35S-methionine pulse labeling followed by protein separations using both one-and two-dimensional polyacrylamide gel electrophoresis. Our data show that, first, proteins with molecular weights similar to those of six of the seven major heat shock proteins are normally found in the embryo at control temperatures (22 degrees C); second, that the pregastrula embryo (stages 2-6) is not capable of displaying any aspect of the heat shock response upon treatment, although it may possess all of the so-called heat shock proteins; third, that the complete heat shock response is acquired very rapidly by early gastrula embryos; and fourth, that the heat shock treatment brings about developmental delays and/or abnormalities, depending on the developmental stage of the embryo at the time of the treatment. These developmental abnormalities appear to stem from the failure of early embryos to completely inhibit their synthesis of non-heat-shock proteins. In the light of these findings, it becomes important not to base conclusions about the putative presence of a heat shock response in a particular tissue or developmental stage solely on the presence or absence of the heat shock proteins.

Animals↗

PubMed2004

Brief report: parental reporting of regression in children with pervasive developmental disorders.

Information on age and nature of the onset of autism and other developmental disorders was obtained through review of parent completed developmental history; in addition information on the child's early development, diagnostic information, and information on parent characteristics was also obtained. In this relatively large series of cases the parents of children with autism were more likely than parents of children with other developmental disorders to report possible loss of developmental skills. However, the question of actual skill loss was complicated since in some cases parents also had reported even earlier developmental delays or a pattern more of developmental stagnation than clear loss of abilities. Only a few children exhibited a clear and unequivocal loss of developmental skills.

Child↗

PubMed2001

Diagnosis and treatment of childhood mitochondrial diseases.

Mitochondrial cytopathies are caused by genetic alterations of nuclear- or mitochondrial-encoded genes involved in the synthesis of subunits of the electron transport chain. Mutations of mitochondrial DNA are associated with a wide range of clinical presentations [1-4]. The ubiquitous nature of mitochondria and the role of the mitochondria in cellular metabolism result in the potential for any tissue in the body to be affected [5-7,8..,9]. Although some children with mitochondrial disease present with life-threatening lactic acidosis in the newborn period, the majority of children come to clinical attention for nonspecific problems, including failure to thrive, developmental delay, seizures, hypotonia, and loss of developmental milestones. The diagnosis of these disorders is made through careful clinical evaluation, coupled with biochemical, morphologic, and molecular biologic techniques. Genetic counseling is difficult due to unique aspects of mitochondrial genetics. Despite advances in our understanding of mitochondrial biochemistry and genetics, treatment options remain limited.

Biomarkers↗

PubMed1990

Discharge planning for the child with infantile spasms.

Infantile spasms is a type of seizure disorder usually occurring within the first 24 months of life. The standard treatment is intramuscular injections of repository corticotropin (HP ACTHAR gel). The child with infantile spasms is at risk for developmental delay, even if the seizures are controlled. The parents' grief reaction to this prognosis may affect their ability to learn and implement the treatment plan. Discharge planning for children and families is extensive and must begin at the time of the child's admission to the hospital.

Adaptation, Psychological↗

PubMed1993

Silver-like syndrome and a small deletion on chromosome 13.

A female child is described with features of Silver's syndrome, including pre- and postnatal growth delay, triangular face, hypertelorism, clinodactyly and developmental delay. In all lymphocytes analyzed, a small deletion was found in chromosome 13. The karyotype was 46,XX,del(13)(q22-32).

Chromosome Aberrations↗

PubMed2006

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

OBJECTIVE: To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. METHODS: Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed. RESULTS: Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett-like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto-temporal predominance and high amplitudes. CONCLUSIONS: The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder, irrespective of whether they have suspected Rett syndrome. Analysis should be considered in these patients in the clinical setting.

Adolescent↗

PubMed2004

Autism in Angelman syndrome: an exploration of comorbidity.

The aim was to explore the comorbidity between Angelman syndrome and autism spectrum disorders (ASDs). Identification of autism in children with Angelman syndrome presents a diagnostic challenge. In the present study, 16 children with Angelman syndrome, all with a 15q11-13 deletion, were examined for ASDs. Thirteen children with Angelman syndrome received an ADOS-G algorithm classification of ASD; the remaining three were outside the autistic spectrum. Ten fulfilled the criteria for autism, and three for PDD-NOS. The 10 children with Angelman syndrome and comorbid autism were compared with eight children with only autism regarding their social and communicative skills. The results indicated that Angelman syndrome is better understood in terms of developmental delay, and autism in terms of developmental deviance. It is concluded that autism might have been overdiagnosed due to the extremely low mental age of the children with Angelman syndrome.

Adolescent↗

PubMed1998

Nerve-muscle interactions during flight muscle development in Drosophila.

During Drosophila pupal metamorphosis, the motoneurons and muscles differentiate synchronously, providing an opportunity for extensive intercellular regulation during synapse formation. We examined the existence of such interactions by developmentally delaying or permanently eliminating synaptic partners during the formation of indirect flight muscles. When we experimentally delayed muscle development, we found that although adult-specific primary motoneuron branching still occurred, the higher order (synaptic) branching was suspended until the delayed muscle fibers reached a favourable developmental state. In reciprocal experiments we found that denervation caused a decrease in the myoblast pool. Furthermore, the formation of certain muscle fibers (dorsoventral muscles) was specifically blocked. Exceptions were the adult muscles that use larval muscle fibers as myoblast fusion targets (dorsal longitudinal muscles). However, when these muscles were experimentally compelled to develop without their larval precursors, they showed an absolute dependence on the motoneurons for their formation. These data show that the size of the myoblast pool and early events in fiber formation depend on the presence of the nerve, and that, conversely, peripheral arbor development and synaptogenesis is closely synchronized with the developmental state of the muscle.

Animals↗

PubMed2006

Worster-Drought syndrome (congenital bilateral perisylvian syndrome) with posterior pituitary ectopia, pituitary hypoplasia, empty sella and panhypopituitarism: a patient report.

Worster-Drought syndrome (WDS) (congenital bilateral perisylvian syndrome, congenital pseudobulbar paresia) is characterized by neuronal migration defect, pseudobulbar paralysis, epilepsy, neuromotor retardation and perisylvian dysplasia. We report a patient with WDS associated with posterior pituitary ectopia, pituitary hypoplasia, partial empty sella and panhypopituitarism, not previously reported in the literature. The 16.4 year-old female patient had severe growth retardation with height SDS -4.5, delayed puberty, microcephaly, pes equinovarus deformity, developmental delay, speech disorder and epilepsy. Laboratory findings, which revealed abnormal electroencephalography and bilateral perisylvian cortical dysplasia on cranial magnetic resonance imaging (MRI) were consistent with WDS. Endocrinological evaluation revealed secondary hypothyroidism and combined deficiency of adrenocorticotropin, gonadotropin and growth hormone (GH). Sella MRI showed congenital empty sella, anterior pituitary hypoplasia, ectopic neurohypophysis, and stalk agenesis. Appropriate replacement therapy was started. GH treatment resulted in a final height of 150.3 cm, appropriate for her target height. This is the first reported patient with WDS associated with congenital structural hypothalamic-pituitary abnormalities, including empty sella, pituitary hypoplasia, posterior pituitary ectopia, stalk agenesis and panhypopituitarism. GH has been successful in the treatment of her short stature.

Adolescent↗

PubMed1997

Stability and change over time in cognitive level of children with delays.

Cognitive and family data on 82 children with developmental delays were collected in an 8-year longitudinal study. Child measures included the Gesell and the UCLA Temperament Scale administered at child age 3 and the Stanford Binet, administered at child ages 6 and 11. Family measures included SES, level of maternal education, and factor scores reflecting family accommodation or adaptation at the three time points. Although cognitive scores for the group were stable, use of a random coefficient regression technique documented differences in the decline of cognitive scores over time. Examination of change scores identified increasing, stable, and decreasing patterns of change. There were significant correlations between change in IQ, entering DQ, and Easy and Difficult temperaments.

Child↗

PubMed2005

A subtype of speech delay associated with developmental psychosocial involvement.

This report presents findings supporting the hypothesis of a clinically relevant subtype of childhood speech sound disorder, provisionally titled speech delay-developmental psychosocial involvement (SD-DPI). Conversational speech samples from 29 children who met inclusionary criteria for SD-DPI were selected from a case record archive at a university speech clinic for children. Participants with SD-DPI had been characterized by speech clinicians and caregivers as having speech delay with psychosocial issues that required attention in the course of at least 1 semester of speech treatment. The 29 participants were divided into 2 subgroups, based on clinicians' and parents' records indicating either approach-related negative affect (n = 23) or withdrawal-related negative affect (n = 6). Each participant with SD-DPI was matched by age, gender, and type of speech involvement to 3 comparison speakers with speech delay of unknown origin (n = 87). Analyses of the conversational speech samples indicated that in comparison with participants in the control group, those with SD-DPI had significantly more severe speech delay, averaging approximately 7% to 10% lowered speech competence in conversation. The clinical prevalence of SD-DPI was estimated at approximately 12% of children referred to the university speech clinic in the present study. The authors interpret the present findings to indicate that approach-related or withdrawal-related negative affect, negative emotionality or mood, and decreased task persistence or attention are risk factors for increased severity of expression of speech delay.

Articulation Disorders↗

PubMed1998

Neurobehavioral development in Joubert syndrome.

Research on children with Joubert syndrome has focused on brain structural abnormalities and associated clinical symptoms. The degree of developmental delay has not been objectively reported. We investigated the neurobehavioral development of children with Joubert syndrome through neurobehavioral assessment in the largest sample to date. Thirty-two parents of children with Joubert syndrome completed the Child Development Inventory and magnetic resonance imaging (MRI) data was gathered on 17 of these children. Results indicate that 94% were severely impaired according to the Child Development Inventory, with age being positively correlated with degree of neurobehavioral impairment. The average developmental age of our sample was 19 months (63% below chronological age). Severity of illness as measured by the General Development scale of the Child Development Inventory and severity of illness as measured by MRI (overall severity rating) did not yield consistent data regarding severity of the midbrain and cerebellar malformations. Similarly, markers of abnormal cerebral development such as cortical atrophy and delayed myelination were independent of severity of illness ratings on the Child Development Inventory. The degree of developmental delay in Joubert syndrome and the severity of gross central nervous system malformations appear independent.

Adolescent↗

PubMed1996

Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13--implications for cytogenetics and molecular biology.

We report on a female with a interstitial deletion of 10p13 and a phenotype similar to that seen with the 22q deletion syndromes (DiGeorge/velo-cardio-facial). She had a posterior cleft palate, perimembranous ventricular septal defect, dyscoordinate swallowing, T-cell subset abnormalities, small ears, maxillary and mandibular hypoplasia, broad nasal bridge, deficient alae nasi, contractures of fingers and developmental delay. This could indicate homology of some developmental genes at 22q and 10p so that patients with the velocardiofacial phenotype who do not prove to be deleted on 22q are candidates for a 10p deletion.

Abnormalities, Multiple↗

PubMed2002

No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.

Patients with monosomy 22q13.3 --> qter have, in addition to (usually severe) developmental delay, hypotonia, severe expressive language delay leading to absence of speech, pervasive developmental abnormalities, and subtle facial anomalies. Thus far, it has been one of the more common submicroscopic telomere deletions seen in patients with mental retardation. Due to the phenotypic overlap between monosomy 22q13.3 and Angelman syndrome (AS), 44 patients with AS features but without one of the characteristic molecular 15q abnormalities were tested for 22qter deletions. In the study group, 31/44 (70%) were heterozygous for locus D22S163 with probe cMS607 (distance 0.125 Mb from telomere). The remaining 13/44 (30%) patients were heterozygous for one or more of four microsatellite markers centromeric from D22S163 in the 22qter region (distances 1.5-4.3 Mb from telomere). Based on the present study, there is no evidence that patients with an "Angelman-like" phenotype are more likely to have a 22qter deletion than other individuals with mental retardation.

Adolescent↗