ABSTRACT
The aim of this study was to find out about attitudes toward inclusion and benefits perceived by families with children enrolled in schools attended by students with ASD at different educational stages (from kindergarten to high school). 323 families of classmates of students with ASD from different educational stages of 16 mainstream schools participated. The analysis of the attitudes, perceived benefits, relationship with the teacher, and relationship with the school was carried out through questionnaires. The results show positive attitudes toward the inclusive education of students with ASD in all families, but especially among families of children with SEN. All the families identified the benefit of inclusion. Attitudes are related to collaboration with the school and satisfaction with teachers.
Subject(s)
Autism Spectrum Disorder , Child , Humans , Schools , Students , Mainstreaming, Education , AttitudeABSTRACT
This study evaluated the functioning of children in early childhood education classroom routines, using the 3M Functioning in Preschool Routines Scale. A total of 366 children aged 36 to 70 months and 22 teachers from six early childhood education centers in Spain participated in the study. The authors used the Rasch model to determine the item fit and the difficulty of the items in relation to children's ability levels in this age range. The Rasch Differential Item Functioning (DIF) analysis by child age groups showed that the item difficulty differed according to the children's age and according to their levels of competence. The results of this study supported the reliability and validity of the 3M scale for assessing children's functioning in preschool classroom routines. A few items, however, were identified as needing to be reworded and more difficult items needed to be added to increase the scale difficulty level to match the performance of children with higher ability levels. The authors introduced the new and reworded items based on the results of this study and the corresponding ICF codes per item. Moreover, the authors indicate how to use the ICF Performance Qualifiers in relation to the 3M scale response categories for developing a functioning profile for the child.
ABSTRACT
A review of the literature shows that racial and ethnic minority children (eg, African American, Asian, and Hispanic) received diagnoses for developmental concerns later in life compared with their age-matched white counterparts. Research has also documented disparities in access to and receipt of health care services among children with developmental concerns as compared with children with other disabilities. OBJECTIVES: We examined health care providers' (HCPs') responses to parents' developmental concerns about their children. We looked at the association with race, ethnicity, gender, rurality, and time to diagnosis. METHODS: All data were secondary and derived from the Centers for Disease Control and Prevention's Survey of Pathways to Diagnosis and Services. Participants consisted of 1321 parents of children who had received early intervention services as reported by respondents' data collected in 2011. RESULTS: From a nationally representative sample of families receiving early intervention services, 76% were white, 10% were African American, 3% were Asian, 5% were Native American, and 9% were Hispanic. Families who were Hispanic were more likely to have received only a delaying response from HCPs. The average time to a developmental delay diagnosis was 5 months longer for families who received a delaying HCP response. CONCLUSIONS: Families who were Hispanic or who were from rural areas were most likely to receive a delayed HCP response; for parents who received a delayed HCP response, a developmental delay diagnosis took 5 months longer than for families from the other groups listed.
Subject(s)
Black People/statistics & numerical data , Developmental Disabilities/therapy , Early Intervention, Educational/statistics & numerical data , Ethnicity/statistics & numerical data , Healthcare Disparities/ethnology , Healthcare Disparities/statistics & numerical data , Black or African American , Attitude of Health Personnel , Child , Developmental Disabilities/diagnosis , Developmental Disabilities/ethnology , Hispanic or Latino , Humans , Rural Population , United States/epidemiology , White PeopleABSTRACT
Professionals from 10 countries are implementing practices from the Routines-Based Model, which has three main components: needs assessment and intervention planning, a consultative approach, and a method for running classrooms. Its hallmark practices are the Routines-Based Interview, support-based visits with families, and a focus on child engagement. Implementers were interested in actual practices for putting philosophy and theory into action in their systems and cultures. We describe implementation challenges and successes and conclude that (a) models have to be adaptable, (b) some principles and practices are indeed universal, (c) we can shape excellent practices for international use, and (d) leadership is vital.
Subject(s)
Models, Educational , Child , Humans , Internationality , Leadership , Referral and ConsultationABSTRACT
We assessed the impact of checklist-based training on teaching teams' use of the zone defense schedule. Three teaching teams (lead teacher plus 2 assistant teachers) in an inclusive early childhood program participated. A multiple baseline design across teams was used to determine whether accurate implementation of the zone defense schedule increased when checklist-based training was provided. All teaching teams reached the preestablished criterion, implementing a minimum of 80% of checklist items accurately for 3 consecutive observations.
Subject(s)
Checklist , Developmental Disabilities/rehabilitation , Faculty , Inservice Training/methods , Teaching/methods , Appointments and Schedules , Child, Preschool , Developmental Disabilities/psychology , Female , Humans , Infant , MaleABSTRACT
AIM: To document previously unreported acute effects of adrenal insufficiency. METHODS: We describe two siblings who presented acutely with hyponatraemia and cerebral oedema following prolonged treatment with high dose inhaled fluticasone. RESULTS: A girl aged 5.5 years presented with vomiting, headache, visual impairment and seizures. She was hyponatraemic but not hypoglycaemic. Her conscious level continued to deteriorate and she died, post mortem examination showing small adrenal glands and cerebral oedema. Four weeks later her 7-year-old brother presented with similar symptoms. Assessment showed hyponatraemia with cerebral oedema. His illness responded to intensive care. A diagnosis of adrenal insufficiency was made retrospectively in both cases. The siblings had been receiving Fluticasone propionate (FP) in doses of up to 2000 microg/day for several years. CONCLUSION: We believe that the hyponatraemia and cerebral oedema was related to cortisol deficiency, leading to impaired excretion of water. We emphasize the need for careful cerebral monitoring in acute adrenal insufficiency presenting with impaired consciousness.
Subject(s)
Adrenal Glands/drug effects , Adrenal Insufficiency/chemically induced , Androstadienes/adverse effects , Brain Edema/etiology , Glucocorticoids/adverse effects , Administration, Inhalation , Adrenal Insufficiency/complications , Androstadienes/administration & dosage , Anti-Asthmatic Agents/administration & dosage , Anti-Asthmatic Agents/adverse effects , Child , Fatal Outcome , Female , Fluticasone , Glucocorticoids/administration & dosage , Humans , Hyponatremia/etiology , Male , SiblingsABSTRACT
The investigation of global developmental delay in preschool children varies between centres and between paediatricians. Following a literature search and review of the evidence base, guidelines were developed to assist in the assessment and management of such children presenting to secondary level services. Evidence supporting the use of genetic and biochemical investigations on a screening basis was found, but there was no evidence to support the use of metabolic investigations or neuroimaging in the absence of other positive findings on history or examination. Detailed history and examination are paramount in the assessment of children with global developmental delay. Investigations can be a useful adjunct in determining aetiology. Evidence based guidelines have been developed to assist doctors in the selection of appropriate investigations for this group of children.
Subject(s)
Developmental Disabilities/etiology , Child, Preschool , Developmental Disabilities/diagnosis , Diagnostic Imaging , Electrocardiography , Humans , Practice Guidelines as Topic , Randomized Controlled Trials as TopicABSTRACT
We outline a method for accomplishing photolithography on grossly nonplanar substrates. First we compute an approximation of the diffraction pattern that will produce the desired light-intensity distribution on the substrate to be patterned. This pattern is then digitized and converted into a format suitable for manufacture by a direct-write method. The resultant computer-generated hologram mask is then used in a custom alignment tool to expose the photoresist-coated substrate. The technique has many potential applications in the packaging of microelectronics and microelectromechanical systems.
ABSTRACT
The association of facial dysmorphism, moderate mental retardation and peripheral neuropathy was observed in a mother and her son. The son also has pyramidal tract involvement in the lower limbs. Although exactly the same association has not been described previously, it seems probable that it results from variable expression of a dominant gene defect.
Subject(s)
Craniofacial Abnormalities/diagnosis , Intellectual Disability/diagnosis , Peripheral Nervous System Diseases/diagnosis , Adolescent , Adult , Craniofacial Abnormalities/genetics , Eyelids/abnormalities , Family Health , Female , Humans , Intellectual Disability/genetics , Male , Muscle Spasticity/diagnosis , Muscle Spasticity/genetics , Peripheral Nervous System Diseases/geneticsABSTRACT
This study was designed to explore parent reactions to the early stages of audiologic assessment and intervention. A total of 213 parents whose children were under the age of 6 years returned a mail survey. Respondents from 45 states participated. Parents were asked to (1) report the approximate age of diagnosis and hearing aid fitting; (2) comment on reasons for any delays encountered from diagnosis to fitting; and (3) respond to questions concerning their reactions to the initial fitting of amplification. The median age of identification was earlier than some previous investigations; however, substantial delays occurred between diagnosis and hearing aid fitting. Reasons for delay included the need for further audiologic evaluation, problems obtaining return appointments, illness of the child, and difficulties obtaining adequate earmolds. Parent reactions to hearing aids, once fitted, included concerns about appearance and questions about maintenance and use, but attitudes regarding hearing aids and their perceived benefits improved over time.
Subject(s)
Attitude to Health , Health Planning Guidelines , Hearing Aids , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/rehabilitation , Parents , Adult , Child , Female , Humans , Male , Middle Aged , Prosthesis Fitting , Sampling Studies , Surveys and QuestionnairesABSTRACT
A 9-year-old boy with dyskinetic cerebral palsy secondary to neonatal encephalopathy is described. He presented with blurring of near vision which had begun to impact on his school work. Objective assessment of accommodation showed that very little was present, although convergence was almost normal. The near-vision symptoms were completely removed and reading dramatically improved with the provision of varifocal spectacles. Varifocal lenses provide an optimal correction for far, intermediate (i.e. for computer screens), and near distances (i.e. for reading). Managing this type of patient with varifocal spectacles has not been previously reported. It is clearly very important to prescribe an optimal spectacle correction to provide clear vision to optimize learning.
Subject(s)
Cerebral Palsy/rehabilitation , Eyeglasses , Refractive Errors/rehabilitation , Accommodation, Ocular/physiology , Cerebral Palsy/complications , Child , Humans , Learning , Male , ReadingABSTRACT
Episodic ataxia type 1 (EA1) is an autosomal dominant central nervous system potassium channelopathy characterized by brief attacks of cerebellar ataxia and continuous interictal myokymia. Point mutations in the voltage-gated potassium channel gene KCNA1 on chromosome 12p associate with EA1. We have studied 4 families and identified three new and one previously reported heterozygous point mutations in this gene. Affected members in Family A (KCNA1 G724C) exhibit partial epilepsy and myokymia but no ataxic episodes, supporting the suggestion that there is an association between mutations of KCNA1 and epilepsy. Affected members in Family B (KCNA1 C731A) exhibit myokymia alone, suggesting a new phenotype of isolated myokymia. Family C harbors the first truncation to be reported in KCNA1 (C1249T) and exhibits remarkably drug-resistant EA1. Affected members in Family D (KCNA1 G1210A) exhibit attacks typical of EA1. This mutation has recently been reported in an apparently unrelated family, although no functional studies were attempted. Heterologous expression of the proteins encoded by the mutant KCNA1 genes suggest that the four point mutations impair delayed-rectifier type potassium currents by different mechanisms. Increased neuronal excitability is likely to be the common pathophysiological basis for the disease in these families. The degree and nature of the potassium channel dysfunction may be relevant to the new phenotypic observations reported in this study.
Subject(s)
Potassium Channels, Voltage-Gated , Potassium Channels/genetics , Action Potentials/genetics , Action Potentials/physiology , Adult , Child, Preschool , Female , Humans , Kv1.1 Potassium Channel , Male , Pedigree , Phenotype , Potassium Channels/physiologyABSTRACT
We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, basal ganglia calcification, negative viral studies, and abnormalities of cerebrospinal fluid comprising either raised white cell counts and/or raised levels of interferon-alpha. By means of genomewide linkage analysis, a maximum-heterogeneity LOD score of 5.28 was reached at marker D3S3563, with alpha=.48, where alpha is the proportion of families showing linkage. Our data suggest the existence of locus heterogeneity in Aicardi-Goutières syndrome and highlight potential difficulties in the differentiation of this condition from pseudo-TORCH (toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus types 1 and 2) syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Brain Damage, Chronic/genetics , Chromosomes, Human, Pair 3/genetics , Genetic Heterogeneity , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/epidemiology , Abnormalities, Multiple/physiopathology , Age of Onset , Brain Damage, Chronic/diagnosis , Brain Damage, Chronic/epidemiology , Brain Damage, Chronic/physiopathology , Child , Child, Preschool , Chromosome Mapping , Diagnosis, Differential , Female , Genetic Markers/genetics , Humans , Infant , Infant, Newborn , Lod Score , Male , Models, Genetic , Pedigree , SyndromeSubject(s)
Mercury Poisoning/etiology , Sphygmomanometers , Child , Home Care Services , Humans , Male , Mercury Poisoning/blood , Mercury Poisoning/urineABSTRACT
One hundred paediatric, muscle ultrasound examinations performed in the evaluation of suspected neuromuscular disease were reviewed. The results were related to the presence or absence of neuromuscular disease in each child assessed. The group comprised 66 males and 34 females, age range 2 months to 16 years (mean 5.3 years). Scans were graded I-IV, according to muscle echogenicity, using Heckmatt's criteria. Thirty-two children had a final diagnosis of neuromuscular disease. The sensitivity of ultrasound in detecting neuromuscular disease was 78% with 91% specificity. The test was more reliable in the sub-group of > 3 years with a sensitivity of 81% and specificity of 96%. There was a significant difference in disease status, (with and without neuromuscular disease), between children with a normal, grade I, scan and those with an abnormal, grade II, III, IV, image (chi-square, P < 0.001, 95% confidence limits 0.54-0.86). Muscle ultrasound is a specific and sensitive investigation for suspected neuromuscular disease in children.
Subject(s)
Muscle, Skeletal/diagnostic imaging , Neuromuscular Diseases/diagnostic imaging , Adolescent , Aging/physiology , Child , Child, Preschool , Female , Humans , Infant , Male , Muscle, Skeletal/pathology , Neuromuscular Diseases/pathology , UltrasonographyABSTRACT
Ischaemic stroke is a rare occurrence in children and in a proportion of cases the aetiology remains unknown. We have investigated the role of thrombophilia in the aetiology of this condition. Of 50 cases identified at two centres, 37 were available for detailed haematological analysis. No cases were identified with deficiencies of antithrombin, protein C or protein S. One case had elevated IgG anticardiolipin antibodies at low titre. The prevalence of the prothrombin 20210 G-->A mutation, factor V Leiden (FVL) mutation and the C677T mutation in the MTHFR gene was compared in cases to that observed in random unselected cord blood controls. The odds ratio for stroke was not significantly increased in carriers of the prothrombin mutation (OR 1.2; 95% CI 0.1-10.7), FVL (OR 2.5; 95% CI 0.5-13.5), or the C677T mutation (OR 1.7; 95% CI 0.6-4.5). Our findings suggest that thrombophilia may not play a significant role in the aetiology of stroke in children, although a large prospective study is required to investigate this area further.
Subject(s)
Cerebrovascular Disorders/genetics , Factor V/genetics , Mutation , Prothrombin/genetics , Age Factors , Cerebrovascular Disorders/physiopathology , Child , Child, Preschool , Humans , Infant , Risk FactorsABSTRACT
Episodic ataxia type 1 (EA1) is a rare autosomal dominant disorder characterized by brief episodes of ataxia associated with continuous interattack myokymia. Point mutations in the human voltage-gated potassium channel (Kv1.1) gene on chromosome 12p13 have recently been shown to associate with EA1. A Scottish family with EA1 harbouring a novel mutation in this gene is reported. Of the five affected individuals over three generations, two had partial epilepsy in addition to EA1. The detailed clinical, electrophysiological and molecular genetic findings are presented. The heterozygous point mutation is located at nucleotide position 677 and results in a radical amino acid substitution at a highly conserved position in the second transmembrane domain of the potassium channel. Functional studies indicated that mutant subunits exhibited a dominant negative effect on potassium channel function and would be predicted to impair neuronal repolarization. Potassium channels determine the excitability of neurons and blocking drugs are proconvulsant. A critical review of previously reported EA1 families shows an over-representation of epilepsy in family members with EA1 compared with unaffected members. These observations indicate that this mutation is pathogenic and suggest that the epilepsy in EA1 may be caused by the dysfunctional potassium channel. It is possible that such dysfunction may be relevant to other epilepsies in man.
Subject(s)
Ataxia/genetics , Epilepsies, Partial/genetics , Ion Channel Gating , Periodicity , Potassium Channels, Voltage-Gated , Potassium Channels/genetics , Adult , Child , Child, Preschool , Electroencephalography , Electromyography , Female , Humans , Kv1.1 Potassium Channel , Male , Membrane Potentials/physiology , Middle Aged , Mutation , Pedigree , Polymerase Chain ReactionABSTRACT
The Coffin-Lowry syndrome is a rare cause of mental retardation recognised by its distinctive facial and digital features. We have observed an unusual, non-epileptic, cataplexy-like phenomenon in three subjects with the syndrome and we speculate that this feature may go unrecognised. We also provide evidence of neuromuscular dysfunction as part of the phenotype by showing abnormalities on muscle ultrasound in four gene carriers.
Subject(s)
Cataplexy/physiopathology , Intellectual Disability/physiopathology , Muscle, Skeletal/diagnostic imaging , Musculoskeletal Abnormalities/diagnostic imaging , Neuromuscular Diseases/physiopathology , Cataplexy/diagnosis , Cataplexy/genetics , Electrocardiography , Electroencephalography , Electromyography , Face/abnormalities , Facies , Female , Fingers/abnormalities , Genetic Linkage , Humans , Infant , Intellectual Disability/genetics , Magnetic Resonance Imaging , Male , Musculoskeletal Abnormalities/genetics , Musculoskeletal Abnormalities/physiopathology , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/genetics , Noise/adverse effects , Syndrome , Ultrasonography , X ChromosomeABSTRACT
A 6 year old boy developed hyperammonaemic encephalopathy following a subureteric injection for treatment of vesicoureteric reflux. The hyperammonaemia may be explained by a postoperative urinary tract infection with a urea splitting organism, leading to raised urine ammonia that was absorbed easily across a dilated urinary tract. Agitation and alteration in consciousness level following a urological procedure, in a child with a dilated urinary tract, may be signs of a treatable hyperammonaemic encephalopathy.