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??Milestones are useful in the early identification and evaluation of motor delay. Considering the wide age range for the motor developmental milestones??it is not always easy to distinguish the abnormal from the normal. Generally speaking??Median Age may be helpful in primary judgement of normal development??while the Limited Age??which is 2SDs from the mean??could be a warning sign of developmental delay. Some mild developmental delay can be transient. Standardized developmental screening scales and diagnostic scales can help assess the development in different domains. We can use motor developmental scales to evaluate children with simple motor delay. As the reliability and validity of developmental scales are usually not good enough??no one scale can replace the physician’s clinical judgement. A protocol of motor surveillance??screening and diagnosis should be followed in the practice of children health care. Muscle tone examination is very important in those children with motor delay. The increased muscle tone always suggest the disorder of central nervous system??and a cranial MRI is often recommended??while the decreased muscle tone could be either central or peripheral. Elevated CK levels may indicate myopathy. Global developmental delay often suggest an impairment of cerebral disorder. As the underlying etiologies of motor delay are miscellaneous??it usually needs to be referred to a pediatric neurologist.     

III health and developmental delays in Adelaide four-year-old children

Standardized medical, visual, audiometric screening and two developmental tests were carried out on 982 four-year-old children. The aims of the study were to determine the prevalence of functionally important health problems, to compare a comprehensive developmental screening test with a simpler one, to assess observer bias in visual screening, and to measure effects of socio-economic status on health and development. Eighteen per cent had minor problems commonly related to development, nutrition, vision and hearing, requiring counselling and / or observation, 16% had new problems requiring assessment and/or treatment, and 0.9% had a severe handicap. Twenty-five per cent had multiple problems of varying severity. The commonest problems of moderate severity were visual 5.4%, secretory otitis media 6.6%, hearing toss 6.1%, wheezing bronchitis 3%, obesity 5.3%, male urogenital delects 4%, minor heart disease 1.1%, and 4.9% had generalized developmental delay confirmd by psychological assessment (I.Q. 50–90). The shorter test failed to detect delay in many of these. Developmental language disorders were confirmed in 4.6% of the total. Many of the 4.2% with behavioural problems, which were significantly more common in one parent families, also showed developmental delays Orthoptists were more accurate at vision screening than nurses. The increased prevalence of developmental delays and benaviour problems in lower socio-economic groups is significant but, with the exception of obesity, the variations in physical problems are not.     

Extraction and Refinement Strategy for detection of autism in 18-month-olds: a guarantee of higher sensitivity and specificity in the process of mass screening

Background: For early detection of autism, it is difficult to maintain an efficient level of sensitivity and specificity based on observational data from a single screening. The Extraction and Refinement (E&R) Strategy utilizes a public children’s health surveillance program to produce maximum efficacy in early detection of autism. In the extraction stage, all cases at risk of childhood problems, including developmental abnormality, are identified; in the refinement stage, cases without problems are excluded, leaving only cases with conclusive diagnoses. Methods: The city of Yokohama, Japan, conducts a routine child health surveillance program for children at 18 months in which specialized public health nurses administer YACHT‐18 (Young Autism and other developmental disorders CHeckup Tool), a screening instrument to identify children at risk for developmental disorders. Children who screen positive undergo further observation, and those without disorders are subsequently excluded. To study the efficacy of early detection procedures for developmental disorders, including autism, 2,814 children born in 1988, examined at 18 months of age, and not already receiving treatment for diseases or disorders were selected. Results: In the extraction stage, 402 (14.3%) children were identified for follow‐up. In the refinement stage, 19 (.7%) of these were referred to the Yokohama Rehabilitation Center and diagnosed with developmental disorders. The extraction stage produced four false negatives, bringing total diagnoses of developmental disorders to 23 (.8%) – including 5 with autistic disorder and 9 with pervasive developmental disorder – not otherwise specified (PDDNOS). Sensitivity was 60% for autistic disorder and 82.6% for developmental disorders. Specificity for developmental disorders rose to 100% with the E&R Strategy. Picture cards used in YACHT‐18 provided a finer screen that excluded some false positive cases. Conclusions: An extraction and refinement methodology utilizing child health surveillance programs achieve high efficacy for early detection of autism.     

A parent-completed developmental questionnaire: follow up of ex-premature infants

OBJECTIVE: Premature infants are at increased risk of developmental disability. Early identification of problems allows intervention to ameliorate or attenuate problems. A reliable screening tool allows triage of children in this high-risk population by identifying those unlikely to need full developmental assessment. To explore the test characteristics of an established parent-completed developmental assessment questionnaire 'Ages and Stages Questionnaire' (ASQ) in follow up of an Australian population of premature infants. METHODOLOGY: One hundred and sixty-seven children born prematurely with corrected ages 12- to 48-months attending the Growth and Development Clinic at the Mater Children's Hospital in Brisbane, Queensland, Australia; 136 questionnaires 'ASQ' were returned completed (81%) and were compared to formal psychometric assessment (Griffith Mental Development Scales for 12- and 24-months, Bayley Mental Development Intelligence Scale for 18-months, McCarthy General Cognitive Intelligence Scale for 48-months). Developmental delay was considered to be present if any of the above psychometric assessments fell below 1.0 standard deviations (SD). The ASQ cut-off used was 2.0 SD (US data derived means and SD). RESULTS: Aggregate results for all age groups comparing ASQ to psychometric assessments as 'gold standards' found the ASQ to have the following test characteristics: sensitivity (90%); specificity (77%); positive predictive value (40%); negative predictive value (98%); % over-referred (20%); % under-referred (1%); % agreement (79%). Likelihood ratio for children failing the ASQ was 3.8 and for passing the ASQ was 0.13. Twenty-one children with known disabilities were included in the study and in 14 of these, the ASQ overall score agreed with the psychometric assessment (67%). CONCLUSION: The high negative predictive value of the ASQ supports its use as a screening tool for cognitive and motor delays in the follow up of ex-premature infants. This would need to be combined with other strategies as part of a comprehensive follow up program for ex-premature infants.     

Parents' evaluation of developmental status in children born with a birthweight of 1250 g or less

OBJECTIVE: To evaluate the agreement between parental reporting of development of children born very preterm using the Parents' Evaluation of Developmental Status (PEDS) questionnaire and professional assessment by a paediatric developmental team in the detection of sensorineural disability. METHODS: A cross-sectional cohort study of 362 children born in Queensland with a birthweight < or = 1250 g, who were surviving at 2 and 4 years of age corrected for prematurity, was conducted. Parents completed the PEDS questionnaire prior to their child receiving a neurodevelopmental assessment. The level of agreement for sensorineural disability between the neurodevelopmental assessment and the parents' score on the PEDS questionnaire was measured using the kappa statistic, and screening test characteristics were calculated. Logistic regression was used to investigate factors that might affect agreement. RESULTS: Two hundred and eighty-three (78%) of the eligible children were located and contacted. Of these, 216 (76%) agreed to participate in the study (110, 2-year-olds; 106, 4-year-olds). Agreement between the two forms of rating sensorineural disability (developmental quotient > -2SD (standard deviation), cerebral palsy, bilateral blindness and deafness requiring aids) for the 4-year age group children was fair (kappa = 0.27, P = 0.001). PEDS accurately identified 69% (11 of 16) of disabled children and 72% (65 of 90) non-disabled children. The test characteristics for these children were similar to Glascoe's norming sample with a PPV 31% (95% CI: 14-48%), specificity 72% (95% CI: 62-81%), but lower sensitivity 69% (95% CI: 62-81%) and higher false-negative rate 31% (95% CI: 11, 59). Agreement for the 2-year age group was fair with poor test characteristics. Other comparisons for both age groups (PEDS A and B compared using a disability status with DQ > -1SD) showed poor agreement and test characteristics. Gestation age < 27 weeks and maternal education at or below grade 10 in the 2-year age group were the only factors independently affecting agreement. CONCLUSIONS: The agreement between parental evaluation of sensorineural disability status using PEDS and paediatrics developmental assessment in children born very preterm at 4-years corrected age for prematurity compares favourably with Glascoe's norming sample. The lower agreement seen in the 2-year age group limits the utility of PEDS to be used as a screen for disability at an age when early intervention may be useful. The PEDS questionnaire is designed and normed for the general paediatric population, and it is not clear if parents of children born very preterm may have interpreted the PEDS questionnaire in relation to their satisfaction with their child's developmental progress rather than their child's functional ability.     

A plea for developmental motor screening in Canadian infants

Motor delays during infancy may be the first observable sign of a specific neurodevelopmental disability or of more global developmental delays. The earlier such disorders are identified, the sooner these infants can be referred for early intervention services. Although developmental motor screening is strongly recommended in other Western countries, Canada has yet to provide a developmental surveillance and screening program. Ideally, screening for motor disabilities should occur as part of the 12-month well-baby visit. In advance of that visit, parents can be provided with a parent-screening questionnaire that they can complete and bring with them to their 12-month office visit. Interpretation of the parent-completed questionnaire takes only 2 min to 3 min of the health care professional’s time and, based on the results, can either reassure parents that their infant is developing typically, or lead to a referral for standardized motor screening or assessment by a paediatric physical or occupational therapist.     

Hematopoietic stem cell transplantation in children with sickle cell anemia: The parents’ experience

Genoidentical HSCT is currently the only curative treatment for SCA, preventing further vascular complications in high‐risk children. Studies on the psychological implications of HSCT for recipient, sibling donor, and the rest of the family have been limited in SCA. This study enrolled ten families and used semi‐structured interviews to explore the parents' experience at three time points: first before transplantation, then 3 months later, and 1 year later. Three themes emerged from the results: (a) the presence of anxiety, experienced throughout the process, and alleviated by coping strategies (positive thinking, family support, praying); (b) the ability to remain parents to recipient and other family members, despite apprehension and feelings of helplessness, reinforced by the mobilization of important resources at the individual/family levels; (c) the ability to acknowledge the opportunity for their child to be cured of the disease, despite feelings of guilt toward families without a donor, or their own families back home. Overall, the parental experience with HSCT is complex, involving intra‐psychic, familial, cultural, religious, and existential factors. Thus, it is important for medical teams to be cognizant of these issues in order to provide the best support to families during the HSCT process.     

微阵列分析技术检测脑发育迟缓患儿基因拷贝数变异

目的 分析发育迟缓患儿基因拷贝数变异(CNVs)与临床表现的相关性.方法 应用微阵列单核苷酸多态性(SNP array)分析技术对1例发育迟缓患儿及其临床表型正常的父母亲进行全基因组CNVs分析.结果 在患儿chr8p23.3p23.1区域发现7.9 Mb片段缺失,在chr8p23.1p11.23区域发现27.4 Mb片段重复;在患儿父亲chr7q31.1区域发现1.21 Mb重复,chrXp22.33区域发现99 kb缺失;患儿母亲未检测到CNVs改变.结论 SNP array技术有助于进一步明确发育迟缓患儿的遗传机制.     

The contribution of developmental surveillance to early detection of cerebral palsy

Abstract A retrospective study of the contribution of examinations at Child Health Centres (CHC) for early detection of cerebral palsy (CP) was performed in 23 924 children, born in 1986-90, in the south-western part of Stockholm County. The outcome assessed was age of referral to a habilitation unit. A total of 66 children with CP (2.76/1000) were identified through the register at the responsible habilitation unit. The age of referral was, median 8 months, mean 12.4 months and range 0.5–54 months. A peak of referrals at 8–9 months was produced by CHC checks at 6 months of age. No other examination at the CHC resulted in a significant number of referrals. Nineteen records from CHC concerning moderate and severe cases were reviewed. Out of all examinations with aberrant findings only 11/20 resulted in referrals or further examinations. No child with moderate or severe CP was referred due to developmental screening test findings only.     

Natural history of suspected developmental delay between 12 and 24 months of age in the 2004 Pelotas birth cohort

Aims: To describe the incidence and persistence of suspected developmental delay (SDD) between 12 and 24 months of age and associated factors in the 2004 Pelotas Birth Cohort. Methods: A cohort of 4262 newborns, 3907 of whose were monitored from 12 to 24 months of life. SDD was established by Battelle Screening Developmental Inventory. The adjusted analyses were carried out using Poisson regression. Relative risks and 95% confidence intervals were calculated. Results: Incidence of SDD between 12 and 24 months of age was 1.8% (95% CI: 1.4–2.3). After the adjusted analyses, the following factors increased the risk of the incidence: Apgar 5′ < 7, preterm delivery, low socio‐economic level, intergestational interval ≤24 months, not having been told stories in the previous 2 weeks, lack of children's books at home and male gender. A total of 390 children were positive in the 12 month (prevalence of 10%; 95% CI: 9.0–10.9). From these children, 58 remained positive up to 2 years of age, with a persistence rate of 15.6% (95% CI: 11.9–19.3). The following were factors for persistence in SDD: Apgar 5′ < 7, low socio‐economic level, intergestational interval ≤24 months, breastfeeding duration <6 months and not having been told stories in the previous 2 weeks. Conclusions: Easy access to children's literature and telling stories to children are inexpensive measures that may have an impact on the child's development between 12 and 24 months of life.     

Chromosome testing in children with developmental delay in whom the aetiology is not evident clinically

A review was carried out to establish the value of chromosome testing in children with significant developmental delay, where the aetiology was not evident clinically. During 1990, 315 children had been assessed at a child development clinic and found to be significantly delayed in one or more areas of development; in 256, the aetiology was not evident clinically. Chromosome testing of these children revealed an abnormality in 10 (3.9%). Thirty children had dysmorphic features; six (20%) of these had an abnormal karyotype. Four (2%) of the 226 who had no dysmorphic features had a chromosome abnormality. One hundred and fifty-five children had intellectual disability; eight (5%) of these had an abnormal karyotype. Two (2%) of 101 who had a specific delay in their development had a chromosome abnormality. The advantages of chromosome testing in children with developmental delay in whom the aetiology is not evident clinically are discussed.     

Developmental screening in infancy — a critical appraisal of its value

ABSTRACT. Developmental screening of 304 infants was assessed by comparing Denver Developmental Screening Test (DDST) results with clinical assessment of developmental delay at 42 weeks of age. It was shown that DDST screening was effective, but largely unnecessary for the majority of infants with major delays as these infants had been identified in the perinatal period and were being followed up. DDST screening also yielded few false positive results but failed to detect many infants with minor delays.
Developmental screening tests, including the DDST, applied as isolated examinations in infant populations are not recommended as many of the conditions being screened for are inadequately understood, their natural history unknown and the need for intervention and treatment unproven. However, all families with young children should be under regular health surveillance whereby the health, growth and development of infants and the way parents rear them is assessed and parents appropriately advised.     

Screening for visual and ocular disorders in children, evaluation of the system in Sweden

The aim of this study was to evaluate the visual screening system in Sweden. We have made a retrospective investigation of the results of screening for ocular disease and visual impairment of all children born in 1982 in three Swedish communities. The records from screening examinations from 0 to 10 y and from diagnostic follow-up at the departments of ophthalmology that the children were referred to were inspected. The data were used to evaluate the efficiency of the Swedish visual screening system. The study included 3126 children. The attendance rate at the 4-y examination was better than 99%. The sensitivity of the 4- and 5.5-y screening examinations was on the average 92% and the specificity was 97%. The average number of false negative cases at 4 y was 5.6 in 1000 (0.56%). With this screening and subsequent diagnosis and treatment, the prevalence of amblyopia at different levels of visual acuity at the age of 10 y was: 0.06% with visual acuity <0.1,0.9% with visual acuity <0.5 and 1.7% with visual acuity < 0.7. In spite of largely unchanged pressure of amblyogenic factors in the population, the prevalence of deep and moderate amblyopia has been markedly reduced by screening and early treatment.     

CNV-seq技术检测90例发育迟缓患儿基因组拷贝数变异的遗传学分析

目的 探讨发育障碍疾病患儿致病性拷贝数变异(CNV)的特征.方法 收集2017至2019年诊断为发育迟缓、并经核型分析患儿的临床资料,采集患儿外周血进行基于高通量测序的低深度全基因组测序(CNV-seq).利用ClinVar、DECIPHER、OMIM、DGV数据库注释CNV数据,依据ACMG评估CNV致病性,并通过P...