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To compare the scores of the Bayley Scales of Infant Development second edition (BSID-II) and the third edition, Bayley-III, in children with suspected developmental delay and to determine the cutoff score for developmental delay in the Bayley-III.
Children younger than 42 months (n=62) with suspected developmental delay who visited our department between 2014 and 2015 were assessed with both the BSID-II and Bayley-III tests.
The mean Bayley-III Cognitive Language Composite (CLC) score was 5.8 points higher than the mean BSID-II Mental Developmental Index (MDI) score, and the mean Bayley-III Motor Composite (MC) score was 7.9 points higher than the mean BSID-II Psychomotor Developmental Index (PDI) score. In receiver operating characteristic (ROC) analysis of a BSID-II MDI score <70, Bayley-III CLC scores showed a cutoff of 78.0 (96.6% sensitivity and 93.9% specificity). In ROC analysis of a BSID-II PDI score <70, the Bayley-III MC score showed a cutoff of 80.
There was a strong correlation between the BSID-II and Bayley-III in children with suspected developmental delay. The Bayley-III identified fewer children with developmental delay. The recommended cutoff value for developmental delay increased from a BSID-II score of 70 to a Bayley-III CLC score of 78 and Bayley-III MC score of 80.
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To investigate the neurodevelopmental outcomes in children with developmental disorder according to visual evoked potential (VEP) results.
We retrospectively analyzed children who visited our Department of Pediatric Rehabilitation Medicine with a chief complaint of developmental disability from January 2001 to July 2015. Of the 549 medical records reviewed, 322 children younger than 42 months who underwent both Bayley Scales of Infant and Toddler Development second edition (BSID-II) and VEP studies were enrolled. We compared the development of 182 children with normal VEP latency and 140 children with delayed VEP latency results using the BSID-II results. The Mann-Whitney U-test was used to analyze the differences between the two groups.
There were no significant differences in baseline characteristics between the two groups. The delayed VEP latency group showed a significant delay in BSID-II index scores and developmental quotients compared with the normal VEP latency group. In addition, a comparative analysis of developmental quotients of mental and psychomotor domains according to age (younger than 12 months, 12–23 months, and 24–42 months) revealed significantly lower values in children with delayed VEP latency compared to children with normal VEP latency, younger than 12 months and from 12 to 23 months.
Children with delayed VEP latency showed more developmental delay than children with normal VEP latency. It is suggested that VEP can be easily applied to children with suspected developmental delay when physicians have concerns about visual impairment. Furthermore, it is proposed that VEP results could provide an insight into children's development and serve as early indicators for consultation with an ophthalmologist for the existing problem.
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Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. A 6-year-old boy presented with speech developmental delay, microcephaly, and dysmorphic features, including a long face and small nose. Chromosome and array comparative genomic hybridization analyses revealed 46,XY,dup(7)(q36.1-q36.3) and del(9)(p24.3). The sizes of the duplication and deletion were 9.9 Mb and 1.9 Mb, respectively. The duplication of chromosome 7 contained 68 known genes, of which 3 are related with entries in the Developmental Disorders Genotype-to-Phenotype (DDG2P) database. The deletion of chromosome 9 contained 6 known genes, of which 2 are in the DDG2P database. We investigated the genotype and phenotype in this patient, and reviewed the relevant literatures for possible clinical presentation in these variations.
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To identify the usefulness of both the Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-III) and Denver Developmental Screening Test II (DDST-II) in preterm babies with neurodevelopmental impairment, considering the detection rate as regulation of criteria.
Retrospective medical chart reviews which included the Bayley-III and DDST-II, were conducted for 69 preterm babies. Detection rate of neurodevelopmental impairment in preterm babies were investigated by modulating scaled score of the Bayley-III. The detection rate of DDST-II was identified by regarding more than 1 caution as an abnormality. Then detection rates of each corrected age group were verified using conventional criteria.
When applying conventional criteria, 22 infants and 35 infants were detected as preterm babies with neurodevelopmental impairment, as per the Bayley-III and DDST-II evaluation, respectively. Detection rates increased by applying abnormal criteria that specified as less than 11 points in the Bayley-III scaled score. In DDST-II, detection rates rose from 50% to 68.6% using modified criteria. The detection rates were highest when performed after 12 months corrected age, being 100% in DDST II. The detection rate also increased when applying the modified criteria in both the Bayley-III and DDST-II.
Accurate neurologic examination is more important for detection of preterm babies with neurodevelopmental impairment. We suggest further studies for the accurate modification of the detection criteria in DDST-II and the Bayley-III for preterm babies.
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To assess the well-being of preterm newborns using the Bayley-III scales in a Korean-based population, and to evaluate the perinatal risk factors influencing developmental outcome.
Using the Bayley-III scales, we assessed 120 preterm infants who were referred for evaluation of neurodevelopmental performance. We subdivided them into an extremely preterm group (n=18) and a very/moderate to late preterm group (n=102). Bayley-III mean scores and the rate of infants showing a delay were compared for both groups. The relationship between perinatal risk factors and Bayley-III scores was analyzed. The risk factors were considered as very low birth weight, history of neonatal medical problems, and abnormal radiologic findings in brain magnetic resonance images (MRIs).
Although no significant differences in mean scores were observed between the extremely preterm group and the very/moderate to late preterm group, the rate of babies showing developmental delay in motor composite scores was significantly higher in the extremely preterm group. The proportions of preterm infants with cognitive, language, and motor delays were 38.3%, 26.7%, and 35.0%, respectively. Very low birth weight was a significant risk factor for low cognitive, language, and motor composite scores. Also, abnormal radiologic findings on brain MRI were significant indicators of lower motor composite scores.
Cognitive development was the most frequently delayed domain in preterm infants and motor development was more frequently delayed in the extremely preterm group. The very low birth weight and abnormal radiologic findings in brain MRI were predictive factors for neurodevelopmental outcome.
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To analyze speech and linguistic features in children with articulation disorder characterized by consonant and vowel phonological errors.
Between February 2007 and June 2015, 117 children who showed articulation disorder were selected for the study. Based on comprehensive speech and language assessments, the subjects were classified into articulation dysfunction (AD), or AD overlapping with language delay. Detailed information of articulation, including percentage of consonants correct (PCC) and normal percentage of variable consonants derived from the Assessment of Phonology and Articulation for Children test, were compared between the two groups.
Totally, 55 children were diagnosed as AD and 62 as AD with language delay. Mean PCC was not significantly different between the two groups. In both groups, the acquisition order of consonants followed the universal developmental sequence. However, differences were observed in the nasal & plosive consonants abnormality between the two groups. When adjusted to their delayed language level in AD with language delay group, 53% of children had appropriate articulation function for their expressive language level.
Speech and linguistic characteristics in children with articulation disorder were variable. Therefore, comprehensive assessment is required in children with inaccurate pronunciation, and a proper treatment plan based on the results of assessment should be followed.
Joubert syndrome (JS) is a rare genetic disorder characterized by a congenital malformation of the hindbrain, and accompanied by axonal decussation abnormalities affecting the corticospinal tract and the superior cerebellar peduncles. To the best of our knowledge, there are no reports of normal pyramidal decussation in JS. Here, we describe the case of an 18-year-old boy presenting midline-crossing corticospinal projections, which were considered normal corticospinal tract trajectories. Diffusion tensor imaging and motor evoked potential study analysis demonstrated the exclusive presence of decussating corticospinal projections in the patient. Based on these results, we suggest that JS might be associated with several, diverse corticospinal motor tract organization patterns.
To investigate motor and cognitive developmental profiles and to evaluate the correlation between two developmental areas and assess the influencing factors of the developmental process in children with Down syndrome (DS).
Seventy-eight children with DS participated in this study. The medical history was taken and motoric milestone achievements recorded. The Korean Wechsler Preschool and Primary Scale of Intelligence (K-WPPSI) and Bayley Scales of Infant Development-II (BSID-II) were administered. Subjects were divided into severe motor delay group (severe group) and typical motor delay group (typical group).
Children with DS follow the same sequence of motor development and generally displayed double times of acquisition of developmental milestones compared with healthy children. Furthermore, having surgery for associated complications showed negative influence to the motor development. Almost of all children with DS showed moderate degree of intellectual disability and motor and cognitive development do not seem to correlate one another.
Surgery of associated complications can be negatively related to motor development. However, early motor development did not have any significant effects on the achievement of later cognitive functioning.
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To evaluate the effectiveness of intensive neurodevelopmental treatment (NDT) on gross motor function for the children having developmental delay (DD), with or without cerebral palsy (CP).
Forty-two children had intensive NDT three times weekly, 60 minutes a day, for 3 months, immediately followed by conventional NDT once or twice a week, 30 minutes a day, for another 3 months. We assessed Gross Motor Function Measure (GMFM) over three time points: before conventional NDT, before and after intensive NDT, and after 3 months of additional conventional NDT.
The GMFM score in DD children significantly improved after intensive NDT, and the improvement maintained after 3 months of conventional NDT (p<0.05). The children were further divided into two groups: DD with CP and DD without CP. Both groups showed significant improvement and maintained the improvements, after intensive NDT (p<0.05). Also, there was no significant difference in treatment efficacy between the two groups. When we calculate the absence rate for comparing the compliance between intensive and conventional NDT, the absence rate was lower during the intensive NDT.
Intensive NDT showed significantly improved gross motor function and higher compliance than conventional NDT. Additionally, all improvements were maintained through subsequent short-term conventional NDT. Thus, we recommend the intensive NDT program by day-hospital centers for children with DD, irrespective of accompanying CP.
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Cerebral Palsy: Current Opinions on Definition, Epidemiology, Risk Factors, Classification and Treatment Options
To investigate the usefulness of the communication domain in the Korean version of Ages and Stages Questionnaire (K-ASQ), and short form of the Korean version of MacArthur-Bates Communicative Development Inventories (M-B CDI-K), as screening tests for language developmental delay.
Data was collected between April 2010 and December 2013, from children who visited either the Department of Physical Medicine and Rehabilitation or the Developmental Delay Clinic, presenting with language development delay as their chief complaint. All the children took the short form of M-B CDI-K and K-ASQ as screening tests, and received diagnostic language assessments including Sequenced Language Scale for Infants (SELSI) or Preschool Receptive-Expressive Language Scale (PRES).
A total of 206 children, mean age 29.7 months, were enrolled. The final diagnoses were developmental language disorder, global developmental delay, autism spectrum disorder, cerebral palsy, etc. The M-B CDI-K short form and the communication domain of the K-ASQ had 95.9% and 76.7% sensitivity, and 82.4% and 85.3% specificity, with regards to diagnostic language assessments. The M-B CDI-K short form showed higher negative predictive value and better accuracy than the communication domain of the K-ASQ.
The screening ability of K-ASQ was not sufficient for children with language development delay, and the M-B CDI-K short form should be implemented for additional screening.
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Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of speech, and minor brain malformations.
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To compare and analyze the clinical characteristics of children with delayed language acquisition due to two different diagnoses, which were specific language impairment (SLI, a primarily delayed language development) and global developmental delay (GDD, a language delay related to cognitive impairment).
Among 1,598 children who had visited the developmental delay clinic from March 2005 to February 2011, 467 children who were diagnosed with GDD and 183 children who were diagnosed with SLI were included in this study. All children were questioned about past, family, and developmental history, and their language competences and cognitive function were assessed. Some children got electroencephalography (EEG), in case of need.
The presence of the perinatal risk factors showed no difference in two groups. In the children with GDD, they had more delayed acquisition of independent walking and more frequent EEG abnormalities compared with the children with SLI (p<0.01). The positive family history of delayed language development was more prevalent in children with SLI (p<0.01). In areas of language ability, the quotient of receptive language and expressive language did not show any meaningful statistical differences between the two groups. Analyzing in each group, the receptive language quotient was higher than expressive language quotient in both group (p<0.01). In the GDD group, the Bayley Scales of Infant Development II (BSID-II) showed a marked low mental and motor quotient while the Wechsler Intelligence Scale showed low verbal and nonverbal IQ. In the SLI group, the BSID-II and Wechsler Intelligence Scale showed low scores in mental area and verbal IQ but sparing motor area and nonverbal IQ.
The linguistic profiles of children with language delay could not differentiate between SLI and GDD. The clinicians needed to be aware of these developmental issues, and history taking and clinical evaluation, including cognitive assessment, could be helpful to diagnose adequately and set the treatment plan for each child.
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Arnold-Chiari malformation type III (CM III) is an extremely rare anomaly with poor prognosis. An encephalocele with brain anomalies as seen in CM II, and herniation of posterior fossa contents like the cerebellum are found in CM III. The female infant was a twin, born at 33 weeks, weighing 1.7 kg with a huge hydrocele on the craniocervical junction. After operations were performed, she was referred to the department of rehabilitation medicine for poor motor development, swallowing dysfunction, and poor eye fixation at 22 months. The child was managed with neurodevelopmental treatment, oromotor facilitation, and light perception training. After 14 months, improvement of gross motor function was observed, including more stable head control, rolling, and improvement of visual perception. CM III has been known as a condition with poor prognosis. However, with the improvement in operative techniques and intensive rehabilitations, the prognosis is more promising than ever before. Therefore, more attention must be paid to the rehabilitation issues concerning patients with CM III.
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To investigate the usefulness of MacArthur-Bates Communicative Development Inventories-Korean (M-B CDI-K) short form as a screening test in children with language developmental delay.
From April 2010 to May 2012, a total of 87 patients visited the department of physical medicine and rehabilitation of National Health Insurance Service Ilsan Hospital with the complaint of language developmental delay and were enrolled in this study. All patients took M-B CDI-K short form and Sequenced Language Scale for Infants (SELSI) or Preschool Receptive-Expressive Language Scale (PRES) according to their age.
The study group consisted of 58 male patients and 29 female patients and the mean age was 25.9 months. The diagnosis are global developmental delay in 26 patients, selective language impairment in 31 patients, articulation disorder in 7 patients, cerebral palsy in 8 patients, autism spectrum disorder in 4 patients, motor developmental delay in 4 patients, and others in 7 patients. Seventy-one patients are diagnosed with language developmental delay in SELSI or PRES and of them showed 69 patients a high risk in the M-B CDI-K short form. Sixteen patients are normal in SELSI or PRES and of them showed 14 patients non-high risk in the M-B CDI-K short form. The M-B CDI-K short form has 97.2% sensitivity, 87.5% specificity, a positive predictive value of 0.97, and a negative predictive value of 0.88.
The M-B CDI-K short form has a high sensitivity and specificity so it is considered as an useful screening tool in children with language developmental delay. Additional researches targeting normal children will be continued to supply the specificity of the M-B CDI-K short form.
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Isodicentric chromosome 15 [idic(15)] is a rare chromosomal abnormality that occurs due to inverted duplication of chromosome 15q. It is associated with many clinical findings such as early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizure. Delayed development is a common problem referred to pediatric rehabilitation clinics. A 9-month-old boy with delayed development was referred to our clinic for assessment and treatment. On chromosomal analysis, he was diagnosed as idic(15) syndrome with 47,XY,+idic(15)(q12) on karyotyping. Herein we describe his clinical manifestations and provide a brief review of the related literature.
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To obtain reliability and applicability of the Korean version Bayley Scale of Infant Development-II (BSID-II) in evaluating the developmental status of children with cerebral palsy (CP).
The inter-rater reliability of BSID-II scores from 68 children with CP (46 boys and 22 girls; mean age, 32.54±16.76 months; age range, 4 to 78 months) was evaluated by 10 pediatric occupational therapists. Patients were classified in several ways according to age group, typology, and the severity of motor impairment by the level of the Gross Motor Function Classification System (GMFCS). The measures were performed by video analysis, and the results of intraclass correlation (ICC) were obtained for each of the above classifications. To evaluate the clinical applicability of BSID-II for CP, its correlation with the Gross Motor Function Measure (GMFM), which has been known as the standard motor assessment for CP, was investigated.
ICC was 0.99 for the Mental scale and 0.98 for the Motor scale in all subjects. The values of ICC ranged from 0.92 to 0.99 for each age group, 0.93 to 0.99 for each typology, and 0.99 to 1.00 for each GMFCS level. A strong positive correlation was found between the BSID-II Motor raw score and the GMFM total score (r=0.84, p<0.001), and a moderate correlation was observed between the BSID-II Mental raw score and the GMFM total score (r=0.65, p<0.001).
The Korean version of BSID-II is a reliable tool to measure the functional status of children with CP. The raw scores of BSID-II showed a great correlation with GMFM, indicating validity of this measure for children with CP on clinical basis.
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To perform an in depth evaluation of children, and thus provide a systematic method of managing children, who after infantile health screening, were categorized as suspected developmental delay.
78 children referred to the Developmental Delay Clinic of Ilsan Hospital after suspected development delay on infantile health examinations were enrolled. A team comprised of a physiatrist, pediatrician and pediatric psychiatrist examined the patients. Neurological examination, speech and cognitive evaluation were done. Hearing tests and chromosome studies were performed when needed clinically. All referred children completed K-ASQ questionnaires. Final diagnoses were categorized into specific language impairment (SLI), global developmental delay (GDD), intellectual disability (ID), cerebral palsy (CP), motor developmental delay (MD) or autism spectrum disorder (ASD).
72 of the 78 patients were abnormal in the final diagnosis, with a positive predictive value of 92.3%. Thirty (38.4%) of the 78 subjects were diagnosed as GDD, 28 (35.8%) as SLI, 5 (6.4%) as ASD, 9 (12.5%) as MD, and 6 (7.6%) as normal. Forty five of the 78 patients had risk factors related to development, and 18 had a positive family history for developmental delay and/or autistic disorders. The mean number of abnormal domains on the K-ASQ questionnaires were 3.6 for ASD, 2.7 for GDD, 1.8 for SLI and 0.6 for MD. Differences between these numbers were statistically significant (p<0.05).
Because of the high predictive value of the K-ASQ, a detailed evaluation is necessary for children suspected of developmental delay in an infantile health promotion system.
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To assess the relationship of scores on the test of infant motor performance (TIMP), with those on the Bayley scales of infant development (BSID), and to investigate the sensitivity and specificity of TIMP and the optimal cut-off value of TIMP scores using ROC analysis.
Seventy-six preterm and term infants were recruited from neonatal intensive care units. Subjects were tested with the TIMP at their initial visit and after 6 months, they were tested by using BSID.
In the reliability study, TIMP scores showed highly significant correlation with the Bayley physical developmental index (BPDI) (p=0.001) and Bayley mental developmental index (BMDI) (p=0.017). Receiver operator characteristics (ROC) curve analysis was performed to evaluate the TIMP test for screening infant motor development. ROC analysis showed an area under the curve (AUC) of 0.825 (p=0.005) in BPDI and 0.992 (p=0.014) in BMDI, indicating an excellent classification performance of the model. The optimal cut-off value where a sensitivity of 86%, and specificity of 68% were achieved with the TIMP was 1.50 (between average and below average) in BPDI and where a sensitivity of 100%, and specificity of 66% were achieved with the TIMP was 1.50 in BMDI.
Our results indicate that the TIMP provides a reliable and valid measurement that can be used for the evaluation of motor function in preterm and term infants. TIMP was highly sensitive and specific with the follow-up examination of BSID. Therefore it can be used as a reliable screening tool for neonates and infants aged <4 months.
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To investigate the coexistence rate and related factors of developmental dysplasia of the hip (DDH) and congenital muscular torticollis (CMT), and to determine whether ultrasonography (US) gives good value for screening of DDH in CMT.
We prospectively examined 121 infants (73 males and 48 females) diagnosed with CMT to determine the incidence of DDH by US. We also assessed the relationship between neck US findings and DDH occurrence, and investigated the clinical features of CMT related to DDH.
18 patients (14.9%) were diagnosed as having DDH by US. However, most DDH was subclinical and spontaneously resolved. Only 2 patients (1.7%) needed to be treated with a harness. The positive predictive value of clinical examinations for DDH was 52.6% and patients treated by harness were all clinically positive. DDH was more common in the left side (13 left, 4 right, 1 both), but 6 out of 18 DDH (33.3%) cases presented on the contralateral side of CMT. Sex difference was not observed. Breech presentation and oligohydramnios were not related to DDH occurrence. Neck US findings did not correlate with DDH occurrence.
The coexistence rate of CMT and DDH was concluded to be 14.9%. If only DDH cases that required treatment were included, the coexistence rate of these two disorders would be lowered to 1.7%. All of these patients showed positive findings in clinical examination. Therefore, hip US should not be recommended routinely for patients with CMT.
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To evaluate concurrent validity between the Korean-Ages and Stages Questionnaires (K-ASQ) and the Denver Developmental Screening Test II (DDST II), and to evaluate the validity of the K-ASQ as a screening tool for detecting developmental delay of Korean children.
A retrospective chart review was done to examine concurrent validity of the screening potentials for developmental delay between the K-ASQ and the DDST II (n=226). We examined validity of the K-ASQ compared with Capute scale (n=141) and Alberta Infant Motor Scale (AIMS) (n=69) as a gold standard of developmental delay. Correlation analysis was used to determine the strength of the associations between tests.
A fair to good strength relationship (k=0.442, p<0.05) was found between the K-ASQ and the DDST II. The test characteristics of the K-ASQ were sensitivity 76.3-90.2%, specificity 62.5-76.5%, positive likelihood ratio (PLR) 2.41-3.40, and negative likelihood ratio (NLR) 0.16-0.32.
Evidence of concurrent validity of the K-ASQ with DDST II was found. K-ASQ can be used for screening of developmental delay.
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