Mental Health of Children With Special Educational Needs and the Return to In-Person Learning After the COVID-19 Pandemic.

Importance: There is limited evidence on whether the quality of life and behavior of children with special educational needs (SEN) have improved or worsened since schools reopened after COVID-19-related school closures. Objective: To describe the changes in the mental well-being of children and adolescents with SEN during the initial 6 months of resuming in-person learning after COVID-19-related school closures. Design, Setting, and Participants: This repeated cross-sectional study reported data from surveys completed by parents and caregivers of children and adolescents aged 3 to 18 years with SEN studying at special schools in Hong Kong. The first cohort was obtained during COVID-19-related school closure in April 2020 (wave 1) and the second cohort was obtained 6 months after school resumption with data collection between July and October 2021 (wave 2). Data analysis occurred from January to June 2022. Exposure: Diagnosis of a disability or disorder that required school-based special educational programming. Main Outcomes and Measures: Children's emotional and behavioral difficulties (measured with the Strengths and Difficulties Questionnaire [SDQ]), quality of life (measured with the Pediatric Quality of Life Inventory [PedsQL]), lifestyle habits, parental stress, and parental well-being (measured with the PedsQL Family Impact Module) were assessed. Cross-sectional comparisons of well-being between the 2 waves were conducted using analysis of covariance, and multiple regression analysis was performed to identify factors associated with mental health outcomes in wave 2. Results: In wave 1, a total of 456 parents and caregivers of children with SEN (mean [SD] age, 7.44 [3.98] years; 315 boys [69.1%]; 141 girls [30.9%]) responded to the surveys. In wave 2, 519 parents and caregivers of children with SEN (mean [SD] age, 8.16 [4.47] years; 365 boys [70.3%]; 154 girls [29.7%]) responded. After school resumption, preschoolers aged 3 to 5 years with SEN had significantly fewer emotional difficulties (mean [SD] SDQ score, 3.26 [2.39] vs 2.68 [2.03]; standardized mean difference [SMD] = 0.26; 95% CI, 0.07-0.46; Bonferroni-corrected P = .04) and conduct difficulties (mean [SD] SDQ score, 2.88 [1.89] vs 2.41 [1.91]; SMD = 0.25; 95% CI, 0.05-0.44; Bonferroni-corrected P = .01), whereas adolescents had more conduct difficulties (mean [SD] SDQ score, 1.62 [1.50] vs 2.37 [3.02]; SMD = 0.41; 95% CI, 0.13-0.70; Bonferroni-corrected P = .049). The overall quality of life of school-aged children with SEN aged 6 to 11 years worsened after school resumption (mean [SD] PedsQL score, 67.52 [17.45] vs 60.57 [16.52]; SMD = 0.41; 95% CI, 0.19-0.62; Bonferroni-corrected P = .002). Conclusions and Relevance: The findings of this repeated cross-sectional study suggest that preschoolers with SEN had improved emotional and behavioral functioning when school resumed after COVID-19-related closures. School-aged children with SEN, adolescents with SEN, and children with intellectual disabilities were at risk of reduced quality of life, indicating that additional support should be offered to vulnerable groups as they return to schools.

Natural history of infants with vitamin D deficiency in Hong Kong.

BACKGROUND AND OBJECTIVES: The usual recommended intake of vitamin D for healthy infants is 400 international unit (IU) daily. However, a high dose of vitamin D at 2000-3000 IU daily is needed for those with vitamin D deficiency (VDD). This study aimed to assess the natural history of a group of healthy infants with VDD and the associated factors for persistent VDD. METHODS AND STUDY DESIGN: Healthy infants detected to have VDD (25OHD <25 nmol/L) in a population study were followed, and their demographics and clinical data were collected. RESULTS: One hundred and thirty-one subjects (boys = 66%) were included. Their first serum 25OHD was taken at a median age of 87.5 days. None were treated with high-dose vitamin D supplements, but some have been given vitamin D at 400 IU daily. They were assessed again at the median age of 252.5 days when 15 remained to have VDD and 26 were in the insufficient range (25 - 49.9nmol/L). All persistent VDD children were on exclusive breastfeeding. Exclusive breastfeeding and no vitamin D supplementation were significant risk factors for persistent vitamin D insufficiency (<50nmol/L). CONCLUSIONS: Persistent VDD is common among infants exclusively breastfeeding and those who did not receive vitamin D supplementation.

Clinical characteristics of unvaccinated or incompletely vaccinated children with neurological manifestations due to SARS-CoV-2 Omicron infection.

Omicron generally causes milder disease than previous strains of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), especially in fully vaccinated individuals. However, incompletely vaccinated children may develop Omicron-related complications such as those affecting the central nervous system. To characterize the spectrum of clinical manifestations of neuro-COVID and to identify potential biomarkers associated with clinical outcomes, we recruited 15 children hospitalized for Omicron-related neurological manifestations in three hospitals in Hong Kong (9 boys and 6 girls aged 1-13 years). All were unvaccinated or incompletely vaccinated. Fourteen (93.3%) were admitted for convulsion, including benign febrile seizure (n = 7), complex febrile seizure (n = 2), seizure with fever (n = 3), and recurrent breakthrough seizure (n = 2), and the remaining nonconvulsive patient developed encephalopathic state with impaired consciousness. None of the seven children with benign febrile seizure and six of eight children with other neurological manifestations had residual deficits at 9-month follow-up. SARS-CoV-2 RNA was undetectable in the cerebrospinal fluid (CSF) specimens of seven patients who underwent lumbar puncture. Spike-and-wave/sharp waves affecting the frontal lobes were detected in four of seven (57.1%) patients who underwent electroencephalogram. Children with Omicron-related neurological manifestations had significantly higher blood levels of IL-6 (p < 0.001) and CHI3L1 (p = 0.022) than healthy controls, and higher CSF levels of IL-6 (p = 0.002) than children with non-COVID-19-related febrile illnesses. Higher CSF-to-blood ratios of IL-8 and CHI3L1 were associated with longer length of stay, whereas higher ratios of IL-6 and IL-8 were associated with higher blood tau level. The role of CSF:blood ratio of IL-6, IL-8, and CHI3L1 as prognostic markers for neuro-COVID should be further evaluated.

Students' interaction anxiety and social phobia in interprofessional education in Hong Kong: mapping a new research direction.

BACKGROUND: Interprofessional education (IPE) has been promoted as a breakthrough in healthcare because of the impact when professionals work as a team. However, despite its inception dating back to the 1960s, its science has taken a long time to advance. There is a need to theorize IPE to cultivate creative insights for a nuanced understanding of IPE. This study aims to propose a research agenda on social interaction by understanding the measurement scales used and guiding researchers to contribute to the discussion of social processes in IPE. METHOD: This quantitative research was undertaken in a cross-institutional IPE involving 925 healthcare students (Medicine, Nursing, Social Work, Chinese Medicine, Pharmacy, Speech Language Pathology, Clinical Psychology, Food and Nutritional Science and Physiotherapy) from two institutions in Hong Kong. Participants completed the Social Interaction Anxiety Scale (SIAS-6) and Social Phobia Scale (SPS-6). We applied a construct validation approach: within-network and between-network validation. We performed confirmatory factors analysis, t-test, analysis of variance and regression analysis. RESULTS: CFA results indicated that current data fit the a priori model providing support to within-network validity [RMSEA=.08, NFI=.959, CFI=.965, IFI=.965, TLI=.955]. The criteria for acceptable fit were met. The scales were invariant between genders, across year levels and disciplines. Results indicated that social interaction anxiety and social phobia negatively predicted behavioural engagement (F = 25.093, p<.001, R2=.065) and positively predicted behavioural disaffection (F = 22.169, p<.001, R2=.057) to IPE, suggesting between-network validity. CONCLUSIONS: Our data provided support for the validity of the scales when used among healthcare students in Hong Kong. SIAS-6 and SPS-6 have sound psychometric properties based on students' data in Hong Kong. We identified quantitative, qualitative and mixed methods research designs to guide researchers in getting involved in the discussion of students' social interactions in IPE.Key MessagesThe Social Anxiety Scale (SIAS-6) and Social Phobia Scale (SPS-6) scales have sound psychometric properties based on the large-scale healthcare students' data in IPE in Hong Kong.Social interaction anxiety and social phobia negatively predicted students' behavioural engagement with IPE and positively predicted behavioural disaffection. The scales are invariant in terms of gender, year level and discipline.Quantitative, qualitative and mixed methods studies are proposed to aid researchers to contribute in healthcare education literature using the SIAS-6 and SPS-6.

Preterm postnatal complications and risk of attention-deficit/hyperactivity disorder.

AIM: To investigate the association between the risk of attention-deficit/hyperactivity disorder (ADHD) and preterm birth and determine how postnatal complications in children born preterm is associated with the risk of ADHD. METHOD: This population-based cohort study used data from the Hong Kong electronic medical records. We followed 359 614 children (48% female; 6-17 years old, mean 11 years 7 months, SD 3 years 2 months) born in public hospitals in Hong Kong from 1st January 2004 to 31st December 2014 and collected medical records and demographic details for mothers and children until 11th November 2020. RESULTS: The risk of ADHD was 4.0% in children born at term and 5.1% in children born preterm. The odds ratio for ADHD was 2.08 (95% confidence interval [CI] 1.64-2.64) for children born extremely preterm, 1.64 (95% CI 1.46-1.85) for children born very preterm, and 1.15 (95% CI 1.08-1.23) for children born late preterm. Among preterm postnatal complications, only early respiratory disease, retinopathy of prematurity (ROP), and intraventricular haemorrhage were significant predictors of ADHD after controlling for preterm birth, other risk factors, and sociodemographic variables. The excess risk of ADHD among children born very preterm or late preterm could be partly explained by respiratory disease. ROP partially mediated the risk of ADHD in children born very preterm. INTERPRETATION: Children born preterm in all subcategories, from extremely preterm to late preterm, have increased risk of ADHD. Early respiratory infection partially mediates the risk of ADHD in children born preterm.

Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale.

BACKGROUND: Children with neurodegenerative conditions (CNDC) often suffer from severe neurodisability and high symptom burden with multisystemic involvement. However, their symptom burden and health-related quality of life (HRQOL) is not systematically documented in the literature, and there is no existing tool for such purposes. We designed our own tool for scoring of symptom burden amongst CNDCs and adopted the PedsQL generic score 4.0 to quantify the impact of overall symptom burden on children's overall HRQOL. METHODS: The Symptom Profile for children with neurodegnerative condition (SProND) questionnaire was developed, which consisted of 14 questions grouped according to 5 categories, namely epilepsy, neurobehavioural, movement and mobility related, breathing and swallowing, and other daily activities. CNDCs were recruited during visits to the Comprehensive Neurometabolic / Neurodegenerative Program of the Duchess of Kent Children's Hospital and Hong Kong Children's Hospital between November 2019 and March 2020. The SProND and PedsQL 4.0 Generic Core Scales were distributed to consenting parents of CNDCs. RESULTS: 36 CNDCs were recruited and matched with community controls. The response rate of subject and control were 99.5% and 98.7% respectively. The Cronbach alpha was 0.61 for the neurobehavioural domain and > = 0.7 for other domains. The greater number of symptoms each subject experiences, the worse his/ her PedsQL scores. Subjects displaying hypersalivation and swallowing difficulties had average physical health summary scores of less than 30% compared with subjects without these symptoms. On the other hand, average psychosocial health summary scores of subjects with involuntary movements, joint stiffness, hypersalivation, sleep problem and anorexia were approximately 70% compared to subjects without these symptoms. DISCUSSION AND CONCLUSION: This is one of the first studies to look at CNDCs as a group. We propose the SProND questionnaire for evaluation of symptom profile amongst CNDCs with satisfactory internal and external validity. It demonstrates how physical symptoms impact both physical and psychosocial HRQOL, and the cumulative effect of individual symptoms on the overall HRQOL. As such, CNDCs should be systematically screened for multi-systemic symptoms as a routine part of their clinical care, and care plans should be individually catered to individual patients' symptom burden and specific needs.

Neurobehavioral Impairment in Pediatric Brain Tumor Survivors: A Meta-Analysis.

Purpose: The neurocognitive outcomes of pediatric brain tumor survivors have been extensively studied but the risk and predictors for neurobehavioral impairment are less clearly defined. We systematically analyzed the rates of emotional, psychosocial, and attention problems in pediatric brain tumor survivors. Methods: PubMed, Web of Science, Embase, Scopus, and Cochrane were searched for articles published between January 2012 to April 2022. Eligible studies reported neurobehavioral outcomes for PBTS aged 2 to <23 years with a brain tumor diagnosis before 18 years of age. A random-effect meta-analysis was performed in R. Results: The search yielded 1187 unique publications, of which 50 were included in the quantitative analysis. The estimated risk of having emotional, psychosocial, and attention problems were 15% (95%CI 10−20%), 12% (95%CI 9−16%), and 12% (95%CI 9−16%), respectively. PBTS were more likely to have emotional difficulties (Hedge's g = 0.43 [95%CI 0.34−0.52]), psychosocial problems (Hedge's g = 0.46 [95%CI 0.33−0.58]), and attention problems (Hedge's g = 0.48 [95%CI 0.34−0.63]) compared to normal/healthy control subjects. There was no significant difference in the rates of neurobehavioral impairment between children with and without history of cranial radiotherapy. Conclusions: PBTS are at elevated risk of neurobehavioral impairment. Neurobehavioral monitoring should be considered as the standard of care for PBTS.

Impact of a focus education in Zoom on COVID-19 vaccine hesitancy in Hong Kong parents of the preschoolers.

Parental vaccine hesitancy is a major barrier to achieving high vaccination uptake among children, particularly in young children during the coronavirus disease 2019 (COVID-19) pandemic. Developing herd immunity is a critical concept for overcoming the current pandemic. The purpose of this study is to reduce parental vaccine hesitancy through a focused educational seminar in ZOOM and to empower parents who are concerned about vaccinating their children to communicate with medical experts during live seminars. Parents of preschoolers, teachers, and kindergarten principals from three local pre-school education and services associations attended live seminars. After attending seminars, parental willingness to vaccinate their children increased by 65%. The live Zoom seminar led by medical experts resulted in a decrease in vaccine hesitancy. Our findings support the creation of seminars that allow clients and medical specialists to communicate directly with one another. Offering an open and honest forum for people to express their concerns to medical experts could be a useful strategy for dealing with not only vaccination apprehension, but also other health-related emergencies.

Brain Microstructural Changes Associated With Neurocognitive Outcome in Intracranial Germ Cell Tumor Survivors.

BACKGROUND: Childhood intracranial germ cell tumor (GCT) survivors are prone to radiotherapy-related neurotoxicity, which can lead to neurocognitive dysfunctions. Diffusion kurtosis imaging (DKI) is a diffusion MRI technique that is sensitive to brain microstructural changes. This study aimed to investigate the association between DKI metrics versus cognitive and functional outcomes of childhood intracranial GCT survivors. METHODS: DKI was performed on childhood intracranial GCT survivors (n = 20) who had received cranial radiotherapy, and age and gender-matched healthy control subjects (n = 14). Neurocognitive assessment was performed using the Hong Kong Wechsler Intelligence Scales, and functional assessment was performed using the Lansky/Karnofsky performance scales (KPS). Survivors and healthy controls were compared using mixed effects model. Multiple regression analyses were performed to determine the effects of microstructural brain changes of the whole brain as well as the association between IQ and Karnofsky scores and the thereof. RESULTS: The mean Intelligence Quotient (IQ) of GCT survivors was 91.7 (95% CI 84.5 - 98.8), which was below the age-specific normative expected mean IQ (P = 0.013). The mean KPS score of GCT survivors was 85.5, which was significantly lower than that of controls (P < 0.001). Cognitive impairments were significantly associated with the presence of microstructural changes in white and grey matter, whereas functional impairments were mostly associated with microstructural changes in white matter. There were significant correlations between IQ versus the mean diffusivity (MD) and mean kurtosis (MK) of specific white matter regions. The IQ scores were negatively correlated with the MD of extensive grey matter regions. CONCLUSION: Our study identified vulnerable brain regions whose microstructural changes in white and grey matter were significantly associated with impaired cognitive and physical functioning in survivors of pediatric intracranial GCT.

Changes in Mortality and Cerebral Palsy in Extremely Low-Birth-Weight Infants in a Tertiary Center in Hong Kong.

Introduction. We retrospectively reviewed a cohort of extremely low-birth-weight (ELBW) babies born at Queen Mary Hospital and explored if there is any time trend in survival and short-term neurodevelopmental outcomes. Methods. We included ELBW infants born at Queen Mary Hospital between 2008 and 2015. The relationships between multiple risk factors with survival and neurodevelopmental outcomes were analyzed by either Cox regression or univariate logistic regression analysis. We also compared this birth-year period with our previous study from 1993 to 2002. Results. Two hundred seventeen ELBW infants were delivered during the study period. There was significantly higher overall survival rate (81.1%) in 2008 to 2015 compared with 71.4% in 1993 to 2002. One hundred forty-three out of 176 (81%) survivors were assessed at a corrected mean age of 18.1 months. A total of 4.2% had cerebral palsy. There were significantly lower rates of cerebral palsy in 2008 to 2015 (4.2%) compared with 1993 to 2002 (13.5%). Conclusions. We showed a temporal improvement in survival and short-term neurodevelopmental outcomes.

Neurocognitive function, performance status, and quality of life in pediatric intracranial germ cell tumor survivors.

BACKGROUND: Intracranial germ cell tumors (GCT) are more common in Asia than in the West, accounting for about 15% of brain tumors in Asian children. The survival rate for intracranial GCT is excellent, but there are concerns about the effects of radiotherapy on neuropsychological function and quality of life of patients. METHODS: Intracranial germ cell tumors (GCT) are more common in Asia than in the West, accounting for about 15% of brain tumors in Asian children. The survival rate for intracranial GCT is excellent, but there are concerns about the effects of radiotherapy on neuropsychological function and quality of life of patients. Intracranial GCT survivors in Hong Kong aged ≥ 6 years who received cranial irradiation in the past 15 years were recruited. Neurocognitive function and performance status were assessed by the Hong Kong Wechsler Intelligence scale and Karnofsky/Lansky performance scales (KPS), respectively. Quality of life was assessed using the Pediatric Quality of Life Inventory (PedsQL) Generic Core Scales. A chart review was performed for tumor characteristics and complications related to the tumor and its treatment. RESULTS: Twenty-five intracranial GCT survivors were recruited. Longer length of time since treatment was associated with lower IQ scores. Larger tumor size was associated with lower KPS scores. Hemiparesis, poor manual dexterity, and complications with multi-organ involvement were associated with significantly lower KPS scores. Higher irradiation dosage was associated with lower PedsQL physical scores. CONCLUSIONS: The majority of GCT survivors had average intellectual functioning, satisfactory performance status and relatively good quality of life, except in the physical aspect. Comprehensive evaluation and long-term follow-up of GCT survivors are essential to provide timely support and improve long-term outcomes.

Linking Healthcare and Social Service Databases to Study the Epidemiology of Child Maltreatment and Associated Health Problems: Hong Kong's Experience.

OBJECTIVE: To examine the incidence and trend of child maltreatment and its associated health problems in Hong Kong by linking healthcare and social service databases. STUDY DESIGN: Data on 4816 children under the age of 18 years registered with the Child Protection Registry and matching health records in public hospitals in Hong Kong from 2003 to 2010 were extracted. Associations were examined between different types of child maltreatment and child's medical diagnosis according to the International Statistical Classification of Diseases and Related Health Problems, 10th Revision codes including suicidal attempt (X60-X84), nonchild maltreatment related injuries (S00-S99; T00-T98, excluding T74 and T76 that are maltreatment related injuries), mental health problems (F00-F99), and congenital malformations/chromosomal abnormalities (Q00-Q99). RESULTS: Significant rising trends were found for child physical abuse, neglect, and sexual abuse during the period from 2003 to 2010. Psychological abuse remained stable. Risk of suicide attempt was higher among children suffering from sexual abuse, psychological abuse, and children experiencing multiple abuses; mental health diagnoses were more common in victims of psychological and multiple abuses. Congenital malformations and chromosomal abnormalities were more commonly found among neglected children. CONCLUSIONS: In contrast to the decreasing trend observed in the West during the study period, there has been an escalating trend in child maltreatment in Hong Kong and child maltreatment is strongly associated with major health problems. This is one of the first studies to demonstrate the power of linking healthcare and social service databases, which allows for both a better understanding of the impact of child maltreatment and as a guide future policy and service planning.

Implementation of an interprofessional team-based learning program involving seven undergraduate health and social care programs from two universities, and students' evaluation of their readiness for interprofessional learning.

BACKGROUND: Interprofessional learning is gaining momentum in revolutionizing healthcare education. During the academic year 2015/16, seven undergraduate-entry health and social care programs from two universities in Hong Kong took part in an interprofessional education program. Based on considerations such as the large number of students involved and the need to incorporate adult learning principles, team-based learning was adopted as the pedagogy for the program, which was therefore called the interprofessional team-based learning program (IPTBL). The authors describe the development and implementation of the IPTBL program and evaluate the effectiveness of the program implementation. METHODS: Eight hundred and one students, who are predominantly Chinese, participated in the IPTBL. The quantitative design (a pretest-posttest experimental design) was utilized to examine the students' gains on their readiness to engage in interprofessional education (IPE). RESULTS: Three instructional units (IUs) were implemented, each around a clinical area which could engage students from complementary health and social care disciplines. Each IU followed a team-based learning (TBL) process: pre-class study, individual readiness assurance test, team readiness assurance test, appeal, feedback, and application exercise. An electronic platform was developed and was progressively introduced in the three IUs. The students' self-perceived attainment of the IPE learning outcomes was high. Across all four subscales of RIPLS, there was significant improvement in student's readiness to engage in interprofessional learning after the IPTBL. A number of challenges were identified: significant time involvement of the teachers, difficulty in matching students from different programs, difficulty in making IPTBL count towards a summative assessment score, difficulty in developing the LAMS platform, logistics difficulty in managing paper TBL, and inappropriateness of the venue. CONCLUSIONS: Despite some challenges in developing and implementing the IPTBL program, our experience showed that TBL is a viable pedagogy to be used in interprofessional education involving hundreds of students. The significant improvement in all four subscales of RIPLS showed the effects of the IPTBL program in preparing students for collaborative practice. Factors that contributed to the success of the use of TBL for IPE are discussed.

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

Background: Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although PTEN is a well-known gene identified in patients with this syndromic presentation, other genes in the PI3K-AKT-mTOR signalling pathway have also recently been suggested to have important roles. The aim of this study is to characterise the mutation spectrum of this group of patients. Methods: We performed whole-exome sequencing of 21 patients with macrocephaly and developmental delay/autism spectrum disorder. Sources of genomic DNA included blood, buccal mucosa and saliva. Germline mutations were validated by Sanger sequencing, whereas somatic mutations were validated by droplet digital PCR. Results: We identified ten pathogenic/likely pathogenic mutations in PTEN (n = 4), PIK3CA (n = 3), MTOR (n = 1) and PPP2R5D (n = 2) in ten patients. An additional PTEN mutation, which was classified as variant of unknown significance, was identified in a patient with a pathogenic PTEN mutation, making him harbour bi-allelic germline PTEN mutations. Two patients harboured somatic PIK3CA mutations, and the level of somatic mosaicism in blood DNA was low. Patients who tested positive for mutations in the PI3K-AKT-mTOR pathway had a lower developmental quotient than the rest of the cohort (DQ = 62.8 vs. 76.1, p = 0.021). Their dysmorphic features were non-specific, except for macrocephaly. Among the ten patients with identified mutations, brain magnetic resonance imaging was performed in nine, all of whom showed megalencephaly. Conclusion: We identified mutations in the PI3K-AKT-mTOR signalling pathway in nearly half of our patients with macrocephaly and developmental delay/autism spectrum disorder. These patients have subtle dysmorphic features and mild developmental issues. Clinically, patients with germline mutations are difficult to distinguish from patients with somatic mutations, and therefore, sequencing of buccal or saliva DNA is important to identify somatic mosaicism. Given the high diagnostic yield and the management implications, we suggest implementing comprehensive genetic testing in the PI3K-AKT-mTOR pathway in the clinical evaluation of patients with macrocephaly and developmental delay and/or autism spectrum disorder.

Copy number variation and autism: new insights and clinical implications.

Genomic research can lead to discoveries of copy number variations (CNVs) which can be a susceptibility factor for autism spectrum disorder (ASD). The clinical translation is that this can improve the care of children with ASD. Chromosome microarray is now the first-tiered genetic investigation for ASD, with a detection rate exceeding conventional cytogenetics and any single gene testing. However, interpretation of the results is challenging and there is no consensus on "what" and "how much" to disclose. In this article, we will review how CNV studies have improved our understanding of ASD, the clinical applications, and related counseling issues. Future direction of autism genetic research is also discussed.

Basal ganglia germinoma: MRI classification correlates well with neurological and cognitive outcome.

Basal ganglia germinomas (BGG) are often associated with delayed diagnosis because of their nonspecific clinical presentation and subtle abnormalities on initial neuroimaging. Despite excellent survival, the prognostic indicators still remained unclear. From our case series, we demonstrated that the MRI classification scheme devised by Phi and colleagues is useful in predicting neurological and cognitive outcomes for patients with unilateral BGG. Subtle lesions with faint or no contrast enhancement are associated with early cerebral atrophy with progressive neurological deficits and poor cognitive outcomes. BGG along with bilateral involvement, regardless of the types of lesion, are also associated with poor neurological and cognitive outcomes.