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PubMed1989

Outcome after posthemorrhagic ventriculomegaly in comparison with mild hemorrhage without ventriculomegaly.

The neurodevelopmental sequelae in 33 low birth weight neonates with moderate or severe hemorrhage and ventriculomegaly (VM group) and in 39 neonates with mild hemorrhage only (non-VM group) were evaluated prospectively. Both groups were comparable in birth weight, gestational age, and socioeconomic status. Ventriculoperitoneal shunts were inserted in 23 of the 33 VM group infants at a mean age of 26 days. Eighty-two shunt revisions were performed, for obstruction (71 revisions) or infection (11 revisions), in 18 of the 23 children. At a mean age of 50 months, 19 of 33 children in the VM group had sequelae; 14 children had moderate or severe neurologic deficits, and 5 children had mild sequelae. In the non-VM group, only 3 of 39 children had deficits, all of which were mild (p less than 0.05). In the VM group, 19 of 33 children had mental developmental delay in comparison with 8 of 39 in the non-VM group (p less than 0.05), and 17 of 33 children in the VM group had motor developmental delay in comparison with 5 of 39 in the non-VM group (p less than 0.01). Within the VM group, the number of children with neurodevelopmental sequelae did not differ significantly among the 23 children with shunts, in comparison with the 10 who did not require shunting. Among the children with shunts, a higher incidence of sequelae occurred when lack of ventricular decompression was noted immediately after shunt insertion (p less than 0.005) and when shunt infections occurred (p less than 0.01). The most important predictor of mental and motor outcome in the group with shunts was lack of ventricular decompression immediately after shunt insertion. We speculate that, in some infants, loss of brain tissue, cerebral atrophy, or both may occur before insertion of the ventriculoperitoneal shunt, even when the shunt is inserted early.

Cerebral Hemorrhage↗

PubMed2004

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.

OBJECTIVE: Cryptic subtelomeric chromosome rearrangements account for 6% to 10% of idiopathic mental retardation. As cytogenetic and molecular techniques have become more sophisticated, the number of genetic syndromes attributed to these microdeletions has increased. To date, 64 patients have been described in the literature with a more recently recognized microdeletion syndrome, del 22q13.3. The purpose of this study is to present 11 new cases of this recently described syndrome to delineate further the phenotype and to alert the clinician to another genetic condition that should be considered in the differential diagnosis of early hypotonia, delayed speech acquisition, and autistic behavior. METHODS: Eleven patients were evaluated in 3 academic institutions. Clinical features and results of cytogenetic testing were recorded and tabulated. Reasons for referral for genetic evaluation included developmental delay, severe expressive speech and language delay, and dysmorphic features. RESULTS: Age of presentation ranged from 5 months to 46 years. There were 10 female patients and 1 male patient. All of the patients exhibited delayed motor development, some degree of hypotonia, and severe expressive speech and language delay. Dysmorphic facial features included epicanthal folds, large cupped ears, underdeveloped philtrum, loss of cupid's bow, and full supraorbital ridges. Six patients exhibited autistic-like behaviors. Microscopically visible chromosome deletions were observed in 6 patients. In the remainder, the deletion was detected with the use of fluorescence in situ hybridization. CONCLUSIONS: Hypotonia and developmental delay are nonspecific findings observed in many malformation and genetic syndromes. However, in association with severe speech and language delay and autistic-like behavior, this phenotype may be a significant indication to consider the 22q13 deletion syndrome as a potential cause.

Abnormalities, Multiple↗

PubMed2000

Accidental asphyxia in bed in severely disabled children.

OBJECTIVE: To determine whether there are specific situations which may increase the risk of accidental asphyxia during sleep in children with physical and mental disabilities. METHODOLOGY: Review of all cases where death was attributed to accidental asphyxia caused by unsafe sleeping situations in children listed in the Department of Histopathology database over a 10-year period from March 1989 to February 1999. RESULTS: A total of 26 cases were found (M:F, 19:7; age range, 1-48 months; average age, 7.4 months). Of those cases, two involved children with significant mental and physical impairment. Case 1: A 4-year-old boy with Klippel-Trenaunay-Weber syndrome, macrocephaly and severe developmental delay, was found dead with his head hanging over a wooden board attached to the side of his bed. Case 2: A 4-year-old boy with lissencephaly and severe developmental delay was found dead wedged between a retractable mesh cot side and the side of his bed. In both cases the devices resulting in death had been put in place to prevent the boys from falling out of bed. CONCLUSIONS: Accidental asphyxia in physically and mentally impaired children may be caused by devices that have been used to prevent injury from falling out of bed. Careful assessment of the specific developmental problems that children suffer should be undertaken before their beds are modified. It may be safer for these children either to have no barrier, or to have drop-sided cots/beds that meet recognized safety standards.

Accidents, Home↗

PubMed1982

Validation of an early language milestone scale in a high-risk population.

Detailed language evaluations were obtained by interviewing the parents of 191 healthy children aged 0 to 3 years, and by testing the children themselves. From these data, normative values were derived for 41 language milestones in the first 36 months of life. These values were used to construct the Early Language Milestone Scale (ELM Scale), a brief language assessment tool suitable for use by general pediatricians. Physician use of the ELM Scale in a population of 119 children considered at high risk for the presence of developmental disability yielded 97% sensitivity and 93% specificity for the ELM Scale as a detector of developmentally delayed children, when compared with more formal developmental measures as applied by a clinical psychologist or speech pathologist. Early language milestones are a sensitive indicator of developmental integrity; delayed achievement of early language milestones strongly suggests the presence of a significant underlying developmental disability. The ELM Scale may be adopted as a valid measure of developmental status among children considred at high risk for the presence of developmental disabilities.

Cerebral Palsy↗

PubMed2003

Parent reports of sensory symptoms in toddlers with autism and those with other developmental disorders.

The Short Sensory Profile was used to assess parental report of sensory reactivity across four groups of young children (n = 102). Groups were autism (n = 26), fragile X syndrome (n = 20), developmental disabilities of mixed etiology (n = 32), and typically developing children (n = 24). Groups were comparable on overall mental age (x = 22 months), and clinical groups were comparable on chronological age (x = 31 months). Significant differences were detected at alpha <.01 for tactile sensitivity [F(3,99) = 10.01], taste/smell sensitivity [F(3,99) = 11.63], underreactive/seeks stimulation [F(3,99) = 4.56], auditory filtering [F(3,99) = 19.67], and low energy/weak muscles [F(3,99) = 14.21]. Both children with fragile X syndrome and children with autism had significantly more sensory symptoms overall than the two comparison groups, and children with autism did not differ significantly from children with fragile X syndrome. Both groups were more impaired than developmentally delayed and typically developing children in tactile sensitivity and auditory filtering. Children with autism were more abnormal in responses to taste and smell than all other groups. Children with fragile X syndrome were more abnormal than all other groups in low energy/weak muscles. Sensory reactivity of children with developmental delays was comparable to mental age-matched typically developing toddlers. Correlational analyses indicated that neither overall developmental level nor IQ was related to abnormal sensory reactivity in children with autism or general developmental disorders. However, abnormal sensory reactivity had a significant relationship with overall adaptive behavior.

Adaptation, Psychological↗

PubMed1993

Prevalence and clinical significance of dilated Virchow-Robin spaces in childhood.

PURPOSE: To determine the prevalence and clinical significance of dilated Virchow-Robin spaces in pediatric patients. MATERIALS AND METHODS: Cranial magnetic resonance (MR) studies of 1,250 children who underwent imaging during 12 consecutive months were prospectively evaluated. RESULTS: Thirty-seven patients had prominent Virchow-Robin spaces. The most common indications for imaging in these patients were headache (n = 10), developmental delay (n = 8), and psychiatric problems (n = 7). Medical records revealed that 12 of the 37 patients had severe headaches, 17 had moderate or severe delay in development, and 18 had serious behavioral or psychiatric problems. An association was found between presence or absence of dilated Virchow-Robin spaces and presence or absence of developmental delay (odds ratio = 4.9; 95% confidence interval [CI] = 2.1, 11.1; P < .001), psychiatric problems (odds ratio = 12.6; 95% CI = 5.0, 31.8; P < .001), and headaches (odds ratio = 37; 95% CI = 14.7, 93.2; P < .001). CONCLUSION: There appears to be a correlation between functional neuropsychiatric disorders in children and the presence of Virchow-Robin spaces in the cerebral hemispheres at MR imaging.

Adolescent↗

PubMed2006

ERP evidence of atypical face processing in young children with autism.

Autism involves a basic impairment in social cognition. This study investigated early stage face processing in young children with autism by examining the face-sensitive early negative event-related brain potential component in 3-4 year old children with autism spectrum disorder (ASD), typical development, and developmental delay. Results indicated that children with ASD showed a slower electrical brain response to faces and a larger amplitude response to objects compared to children with typical development and developmental delay. These findings indicate that children with ASD have a disordered pattern of brain responses to faces and objects at an early age.

Autistic Disorder↗

PubMed2003

Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia.

OBJECTIVE: To describe the clinical outcome of fetuses with the prenatal sonographic diagnosis of isolated micrognathia. METHODS: A retrospective review of fetuses and infants with the prenatal diagnosis of isolated micrognathia for April 1990 to August 2001 was undertaken. Isolated micrognathia was considered if no other anatomic, growth, or amniotic fluid abnormalities were detected by a detailed ultrasound examination. Sources of outcome data included maternal and neonatal medical records, prenatal genetics records, and karyotype results. RESULTS: Fifty-eight fetuses with the diagnosis of micrognathia were identified. Fifteen fetuses (26%) had isolated micrognathia by prenatal sonogram. After neonatal examination, 14 of 15 were found to have at least one additional abnormality. Eleven had a cleft of the soft and/or hard palate. Seven (54%) of 13 live-born neonates had mild to severe airway obstruction that required intervention. Four (31%) of 13 experienced feeding difficulties of varying duration. Follow-up data were available for 1 to 10 years. Eight (62%) of 13 children are reported to be doing well. Five (38%) of 13 children are reported to have mild to severe developmental delay. CONCLUSION: If micrognathia is the only sonographic finding identified, physicians and families should be prepared for possible respiratory difficulty at delivery, the presence of a cleft palate, and/or developmental delay.

Adult↗

PubMed1995

Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children.

Data were obtained on 171 individuals with Sturge-Weber syndrome via questionnaire and medical records. The age of the study group ranged from 2 months to 59 years; the median was 8 years. In addition to the facial location of port-wine stains in the areas of the trigeminal dermatomes present in 170 patients, 45% also had extracranial port-wine stains over the torso and/or extremities, and 17% had other vascular or pigmentary lesions. Seizures were present in 80% of all patients (87% of those with bilateral and 71% of those with unilateral port-wine stains); in all but one case, seizures were associated with port-wine stains in V1 alone or V1 and V2 trigeminal dermatomes location. The age of onset of seizures ranged from birth to 23 years; 75% had onset of seizures before 1 year of age; these children had an 83% incidence of developmental and academic problems. Fifty-eight percent showed early developmental delay and required special education classes. The rate of retardation showed a decreasing tendency with increasing age of onset of seizures; of the children without seizures, only 6% had developmental delay and 11% required special education classes. Glaucoma was present in 48% of patients (67% unilateral and 33% bilateral). Of all patients with glaucoma, 92% had port-wine stains in both V1 and V2 dermatomes and 8% only in V1. The laterality of glaucoma did not correspond to the trigeminal distribution of the port-wine stains in all instances. Glaucoma was diagnosed during the 1st year of life in 61% and by 5 years in 72%; one patient did not have onset of symptoms until 38 years. The results of our data can serve as a guide for estimating relative risk figures for seizures, glaucoma, and mental retardation in children with Sturge-Weber syndrome.

Adolescent↗

PubMed2001

The KBG syndrome, characteristic dental findings: a case report.

Short stature and developmental delay may be observed in many genetic conditions and well-defined syndromes. A 7-year-old girl presented with the non-specific findings of subtle dysmorphism, short stature and developmental delay. Although a genetic syndrome was suspected, a definitive diagnosis was not made until the dental findings of KBG syndrome were recognised, namely grossly enlarged maxillary permanent central incisors and hypodontia.

Abnormalities, Multiple↗

PubMed2006

Unbalanced X; autosome translocation.

Unbalanced X; autosome translocation can result in multiple congenital abnormalities/mental retardation syndrome due to chromosomal imbalance. Here is described a patient with developmental delay, microcephaly, agenesis of corpus callosum, spasticity, seizures and dysmorphism as a result of meiotic malsegregation of balanced X; autosome translocation in mother. Present case signifies the importance of chromosomal analysis in a patient with developmental delay/ mental retardation and discuss lyonization in cases with X; autosome translocation.

Agenesis of Corpus Callosum↗

PubMed1988

Normal and abnormal white matter maturation.

The unique ability of MR to demonstrate both normal and abnormal white matter maturation with a high degree of sensitivity makes it an indispensable tool with which to evaluate children with clinical developmental delay or suspected dysmyelinating processes. Because the noninvasive nature of MRI allows sequential studies to be performed without additional risk to the patient, it offers an unprecedented opportunity to study the process of myelination in normal infants, developmentally delayed infants and to better understand the dysmyelinating disorders, a relatively rare, poorly understood group of diseases.

Brain↗

PubMed1997

Health of children adopted from the former Soviet Union and Eastern Europe. Comparison with preadoptive medical records.

CONTEXT: Children born in the countries of the former Soviet Union and Eastern Europe are now a main source of international adoptions in the United States, but often little information is available about these children prior to adoption. OBJECTIVE: To analyze the preadoptive medical reports of children adopted from Eastern Europe and the former Soviet Union and to compare these reports with their evaluations after arrival in the United States. DESIGN: Case series. SUBJECTS AND SETTING: A total of 56 children adopted from Eastern Europe and the former Soviet Union were evaluated in 2 international adoption clinics. Preadoptive medical records were available for 47 of these children. RESULTS: There were 43 (91%) of 47 medical reports available from the children's birth countries that included multiple unfamiliar neurologic diagnoses. Evaluations in the International Adoption Clinics frequently revealed growth delays (zscore < or = -1 for weight in 44% of children, height in 68%, and head circumference in 43%). Children had 1 month of linear growth lag for every 5 months in an orphanage (r=-0.48, P<.001). Developmental delays were also common (gross motor delays in 70% of children, fine motor in 82%, language in 59%, and social-emotional in 53%). While serious medical problems were found or corroborated in 11 (20%) of the 56 children evaluated in our clinics, neurologic diagnoses cited in preadoptive medical reports were not confirmed. CONCLUSIONS: Preadoptive medical records from these international adoptees included multiple diagnoses suggesting severe neurologic impairment. Although these diagnoses were not confirmed when the children were evaluated in the United States, substantial growth and developmental delays were identified.

Adoption↗

PubMed1987

Deletions of proximal 15q without Prader-Willi syndrome.

Fifteen patients with deletion of proximal 15q without typical Prader-Willi syndrome (PWS) have been reported previously [Schwartz et al, 1985]. We report on 2 additional patients without typical PWS found to have deletions of 15q11-13 on chromosome analysis done for evaluation of developmental delay. Their manifestations include broad nasal bridge with telecanthus, full nasal tip with flare of nasal alae, long upper lip, posteriorly angulated ears, highly arched palate, hypotonia, seizures and marked developmental delay. It was suggested that there may be a specific phenotype associated with this deletion which differs from PWS. Whether this deletion differs from the deletion associated with PWS awaits delineation on a molecular level.

Child, Preschool↗

PubMed2006

Mild case of Curry-Jones syndrome.

The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel. Developmental delay occurs in half of the reported patients. The patient reported here has a mild form of the condition with polysyndactyly and skin changes but no craniosynostosis, bowel problems or developmental delay.

Abnormalities, Multiple↗

PubMedDate not supplied

Classical phenylketonuria associated with Goldenhar's syndrome. A case report.

Classical phenylketonuria (PKU) and Goldenhar's syndrome were diagnosed in a six-month-old male infant who was referred to Hacettepe Children's Hospital for evaluation of developmental delay. There had been epibulbar dermoids in his left eye, strabismus, bilateral multiple preauricular appendices, malar hypoplasia, micrognathia, hemifacial microsoma and high palatal vault. In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted. Ferric chloride test on his urine sample was positive, and the plasma phenylalanine level was high (34 mg/dl). Based on these clinical and biochemical findings, the diagnoses of phenylketonuria and Goldenhar's syndrome were made. To our knowledge, this is the first case with PKU and Goldenhar's syndrome.

Goldenhar Syndrome↗

PubMedDate not supplied

Pediatric nurse practitioners and educational mainstreaming.

Educational mainstreaming provides an opportunity for a developmentally delayed child to interact in an environment with nondelayed children. It fosters growth by providing opportunities that other methods of education do not have. Mainstreaming can be initiated by the pediatric nurse practitioner. As the result of the developmental assessment skills of the practitioner, early intervention, a plan of care, referral, and ongoing evaluation can be accomplished. This article looks at the pros and cons of mainstreaming, at reaching a compromise on mainstreaming, at legislation affecting the developmentally delayed child, and at how the pediatric nurse practitioner can use the integrated multidisciplinary model with these children with special needs.

Child↗

PubMed1994

Isolated glycerol kinase deficiency in a neonate.

Glycerol kinase deficiency occurs either as a relatively benign isolated enzyme deficiency, or as part of a syndrome resulting from a microdeletion in the p21 region of the X chromosome associated with congenital adrenal hypoplasia and/or Duchenne muscular dystrophy. Developmental delay is a consistent feature of the microdeletion syndrome but not of the isolated enzyme defect. We report a case of isolated glycerol kinase deficiency in a neonate presenting with hypotonia, apnea, mild developmental delay, and glyceroluria, without evidence of adrenal insufficiency or myopathy. A mild communicating hydrocephalus was noted on magnetic resonance imaging brain scan. It is important, therefore, to exclude glyceroluria in infants being investigated for apnea and hypotonia.

Apnea↗