Virginia C N Wong

• MBBS, FRCP (London, Edin); FRCPCH; FHKAM; FHKCPaed
• Professor at The University of Hong Kong

Background and objectives: Mitochondrial disorders are multiorgan disorders resulting in significant morbidity and mortality. We aimed to characterize death-associated factors in an international cohort of deceased individuals with mitochondrial disorders. Methods: This cross-sectional multicenter observational study used data provided by 26 mit...

Objective: To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region. Methods: This study retrospectively reviewed the phenotypic and molecular characteristics of MD patients from participating public hospitals in HK between January...

Objective: To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region. Methods: This study retrospectively reviewed the phenotypic and molecular characteristics of MD patients from participating public hospitals in HK between January 19...

Background and Purpose To assess whether initial imaging characteristics independently predict 1-year neurological outcomes in childhood arterial ischemic stroke patients. Methods We used prospectively collected demographic and clinical data, imaging data, and 1-year outcomes from the VIPS study (Vascular Effects of Infection in Pediatric Stroke)....

Background: Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole-exome sequencing (WES) is introducing rapid changes on the genetic diagnosis of NMDs. We aimed to investigate the d...

Aim: This study assessed and compared the oral health status, dental trauma experience and oral health habits of children with and without epilepsy. Methods: Thirty-five children with epilepsy aged 3-18 years old were recruited from the pediatric neurology clinics of 2 university-affiliated district hospitals. A sample of 35 age- and gender-matc...

p>OBJECTIVES: Cerebrovascular disease is among the top 10 causes of death in US children, but risk factors for mortality are poorly understood. Within an international registry, we identify predictors of in-hospital mortality after pediatric arterial ischemic stroke (AIS). METHODS: Neonates (0-28 days) and children (29 days-<19 years) with AIS were...

The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic p...

Background: The Griffiths Mental Development Scales (GMDS) are used in many countries to assess the development of children from birth to 8 years. There is a need for accurate and culturally appropriate developmental assessment tools for Chinese children. Here, we adapted the GMDS for use in Chinese children and compare the developmental trajector...

Autism spectrum disorder is associated with diverse social, educational, and occupational challenges. To date, no standardized, internationally accepted tools exist to assess autism spectrum disorder–related functioning. World Health Organization’s International Classification of Functioning, Disability and Health can serve as foundation for develo...

Poster presentation in 8th Congress on Targeting Mitochondria in Berlin, Germany

Background Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy number variants (CNVs) in non-European ASD patients are not well studied. To address this literature gap,...

Introduction: Anti-NMDAR encephalitis is a severe but treatable neurological disorder affecting both children and adults. We study the clinical features, investigation findings and treatment outcome of children and adolescents (<18 years) immunologically confirmed with anti-NMDAR encephalitis in Hong Kong. Methods: 15 patients with confirmed ant...

Appendix S1. The ASD expert survey

Objective: There is an urgent need for reliable and universally applicable outcome measures for children with mitochondrial diseases. In this study, we aimed to adapt the currently available Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to the International Paediatric Mitochondrial Disease Scale (IPMDS) during a Delphi-based process wit...

Objective: This study is the second of four to prepare International Classification of Functioning, Disability and Health (ICF; and Children and Youth version, ICF(-CY)) Core Sets for Autism Spectrum Disorder (ASD).The objective of this study was to survey the opinions and experiences of international experts on functioning and disability in ASD....

Background and Purpose—Published cohorts of children with arterial ischemic stroke (AIS) in the 1990s to early 2000s reported 5-year cumulative recurrence rates approaching 20%. Since then, utilization of antithrombotic agents for secondary stroke prevention in children has increased. We sought to determine rates and predictors of recurrent stroke...

Evidence-based guidelines, or recommendations, for the management of infants with seizures are lacking. A Task Force of the Commission of Pediatrics developed a consensus document addressing diagnostic markers, management interventions, and outcome measures for infants with seizures. Levels of evidence to support recommendations and statements were...

Epileptic Encephalopathy (EE) is a heterogeneous condition in which cognitive, sensory and/or motor functions deteriorate as a consequence of epileptic activity, which consists of frequent seizures and/or major interictal paroxysmal activity. There are various causes of EE and they may occur at any age in early childhood. Genetic mutations have bee...

To determine the associations between autism developmental profiles and cooperation with an oral health screening among preschool children with autism spectrum disorders (ASDs). A random sample of Special Child Care Centres registered with the Government Social Welfare Department in Hong Kong was selected (19 out of 37 Centres). All preschool child...

The aim of this collaborative study on Duchenne muscular dystrophy and Becker muscular dystrophy is to determine the prevalence and to develop data on such patients as a prelude to the development of registry in Hong Kong. Information on clinical and molecular findings, and patient care, was systematically collected in 2011 and 2012 from all Pediat...

This study is the first in a series of four empirical investigations to develop International Classification of Functioning, Disability and Health (ICF) Core Sets for Autism Spectrum Disorder (ASD). The objective was to use a systematic review approach to identify, number, and link functional ability and disability concepts used in the scientific A...

This Chinese girl had alternating hemiplegia of childhood (AHC) since 2months. She failed to respond to anticonvulsants, antimigrainous drugs and calcium channel blockers but achieved complete remission steroid treatment for 4weeks and relapsed after stopping steroid. In order to clarify the unknown etiology, genetic analysis of ATP1A3 gene, which...

Aim To assess and compare the oral health status of preschool children with and without autism spectrum disorders. Methods A random sample of 347 preschool children with autism spectrum disorder was recruited from 19 Special Child Care Centres in Hong Kong. An age- and gender-matched sample was recruited from mainstream preschools as the control g...

Mutation of SCN2A, encoding for voltage-gated sodium channel type II alpha subunit, has been demonstrated in various epilepsy phenotypes, ranging from benign to severe epileptic disorders and recently this had been reported for cases with infantile spasm (IS).Methods We study a 6 years-old Chinese boy with severe developmental delay who had infanti...

The androgen receptor (AR) gene encodes a type of nuclear receptor that functions as a steroid-hormone activated transcription factor. In its coding region, AR includes a CAG repeat, which has been intensely studied due to the inverse correlation between repeat size and AR transcriptional activity. Several studies have reported different (CAG)n siz...

Pediatric myasthenia gravis (P-MG) is an autoimmune disease affecting the neuromuscular junction (NMJ), and is rare in children. The roadmap of the research carried out for P-MG in Hong Kong over the past 30 years was reviewed. Currently, there is a lack of epidemiological studies in comparing clinical data or the outcome for people of different et...

Unlabelled: A Chinese boy presented at 18 months with intractable epilepsy, developmental delay and autistic features. He had multiple seizure types, including absence, myoclonic seizures, limb spasm and tonic seizures. His seizures were finally controlled at 3 years of age with clonazepam and a short course of chloral hydrate incidentally given f...

Objective: The therapeutic approach of traditional chinese Medicine (TCM) in autism spectrum disorder (ASD) is a functional one. To study the efficacy, safety and functional brain change from the use of tongue acupuncture (TAC) on ASD children. Methods: 21 autistic boys (3–16 years old) were randomly assigned to TAC group (TAC: n = 12; receiving da...

Aim Acute flaccid paralysis ( AFP ) surveillance system was set up in H ong K ong in 1997 for W orld H ealth O rganization's ( WHO ) certification of poliomyelitis eradication. This paper describes and reviews the demographic, clinical and virological characteristics of AFP cases reported to the system in its first 15 years. Methods All patients a...

High-frequency action potentials are mediated by voltage-gated sodium channels, composed of one large α subunit and two small β subunits, encoded mainly by SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B genes in the brain. These play a key role in epilepsy, with the most commonly mutated gene in epilepsy being SCN1A. We examined whether polymorphisms in the...

We report a young boy who presented with progressive weakness of lower extremities associated with areflexia and abnormal electrophysiological findings initially suggestive of chronic inflammatory demyelinating polyneuropathy. Initial lumbosacral spinal magnetic resonance imaging (MRI) showed thickened descending spinal nerve roots only. Immunomodu...

Given the variability seen in Autism Spectrum Disorder (ASD), accurate quantification of functioning is vital to studying outcome and quality of life in affected individuals. The International Classification of Functioning, Disability and Health (ICF) provides a comprehensive, universally accepted framework for the description of health-related fun...

Ohtahara syndrome is a severe condition with early onset of recurrent unprovoked seizures associated with abnormal electroencephalography and global developmental delay. Folinic acid-responsive seizures are treatable causes of Ohtahara syndrome, which is thought to be due to recessive mutations in the ALDH7A1 gene, resulting in deficiency of antiqu...

Lathosterolosis is an inborn error of cholesterol biosynthesis due to deficiency of the enzyme 3-beta-hydroxysteroid-delta-5-desaturase (or sterol-C5-desaturase or SC5D). This leads to a block in conversion of lathosterol into 7-dehydrocholesterol. Only three patients with lathosterolosis have been reported in literature, of which one survived. We...

Purpose: High frequency action potentials require voltage-gated sodium channels, composed of one large subunit and two small subunits, encoded mainly by SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B genes. Since mutations of these can cause seizures, we investigatedwhethersingle nucleotide polymorphisms (SNPs) in these genes may affect epilepsyrisk. Met...

Data from 1,261 Chinese Autistic Spectrum Disorder (ASD) patients were evaluated and categorized into dysmorphic (10.79 %) and non-dysmorphic groups (89.21 %) upon physical examination by the presence of dysmorphic features. Abnormal MRI/CT result, IQ scores and epilepsy were significantly associated with the dysmorphic group of ASD children. Howev...

This document is intended as a guide to the protocol development for trials of prophylactic vaccines. The template may serve phases I-IV clinical trials protocol development to include safety relevant information as required by the regulatory authorities and as deemed useful by the investigators. This document may also be helpful for future site st...

Background: Traumatic brain injury (TBI) can be life threatening depending on the severity of the insult to the brain. It can also cause a range of debilitating sequelae which require cognitive, motor, communication, emotional, or behavioral rehabilitation of varying intensity and duration. A number of studies conducted and published in China have...

Background: Hypoxic ischemic encephalopathy (HIE) in the neonate is associated with high mortality and morbidity. Effective treatment options are limited and therefore alternative therapies such as acupuncture are increasingly used. Objectives: We sought to determine the efficacy and safety of acupuncture on mortality and morbidity in neonates w...

Spinal muscular atrophy (SMA) is one of the common neuromuscular disorders in children. In this review, the classification, phenotype, genetics, and management strategy for Chinese SMA patients are discussed, together with insights on new treatment modalities and prospective trials. SMA is an autosomal-recessive disorder with progressive muscle wea...

In areas without expanded newborn screening, instead of presenting neonatally, patients with arginase deficiency typically present with spastic paraplegia in early childhood. Diagnosis of this rare neurometabolic disease poses the first challenge because it is often misdiagnosed as cerebral palsy during initial stages. We describe arginase deficien...

Congenital myasthenic syndrome caused by endplate acetylcholinesterase deficiency constitutes a rare autosomal recessive disease. We describe a child with early-onset ptosis, complete ophthalmoplegia, facial and proximal muscle weakness, easy fatigability, a decremental electromyographic response, and a repetitive compound muscle action potential n...

Dravet syndrome is a severe form of epilepsy. Majority of patients have a mutation in SCN1A gene, which encodes a voltage-gated sodium channel. A recent study has demonstrated that 16% of SCN1A-negative patients have a mutation in PCDH19, the gene encoding protocadherin-19. Mutations in other genes account for only a very small proportion of famili...

Paroxysmal movements in childhood can be epileptic and non-epileptic. Non-epileptic events comprise a wide range of disease entities. It can be challenging for a clinician to make an accurate diagnosis. This review article will focus on the clinical approach to various non-epileptic paroxysmal movements in childhood with particular emphasis on deta...

Traumatic brain injury (TBI) can be life threatening depending on the severity of the insult to the brain. It can also cause a range of debilitating sequelae which require cognitive, motor, communication, emotional, or behavioral rehabilitation of varying intensity and duration. A number of studies conducted and published in China have suggested th...

To determine whether the presence of Machado-Joseph disease (MJD, also spinocerebellar ataxia type 3 [SCA3]) among Australian aborigines was caused by a new mutational event or by the introduction of expanded alleles from other populations. We sequenced a region of 4 kilobases (kb), encompassing the CAG repeat within the ATXN3 gene, in 2 affected A...

The conserved oligomeric Golgi (COG) complex is an eight subunit protein involved in the retrograde transport of Golgi components. It affects the localization of several Golgi glycosyltransferases and hence is involved in N- and O-glycosylation. Genetic defects in this complex belong to the rapidly expanding family of congenital disorders of glycos...

In the majority of patients, epilepsy is a complex disorder with multiple susceptibility genes interacting with environmental factors. However, we understand little about its genetic risks. Here, we report the first genome-wide association study (GWAS) to identify common susceptibility variants of epilepsy in Chinese. This two-stage GWAS included a...

Background: Autism spectrum disorders (ASD) are characterized by impairment in social interaction, impairment in communication and lack of flexibility of thought and behavior. Acupuncture, which involves the use of needles or pressure to specific points on the body, is used widely in Traditional Chinese Medicine and increasingly within a western m...

Acupuncture used for the acute treatment, rehabilitation (or both) of traumatic brain injury (TBI) has been studied in China. We conducted a systematic review to evaluate the efficacy and safety of acupuncture for these conditions. Four randomized controlled trials were eligible for inclusion in this review, involving 294 patients. Three investigat...

Previous studies showed that the anterior cingulate cortex (ACC) is activated when individuals engage in attention and inhibitory control tasks. The present study examined whether ACC activity is associated with behavioral performance of the two tasks. Twenty normal and 20 children with autism spectrum disorders (ASDs) were subjected to neuropsycho...

To determine the association between polymorphisms of the multidrug transporter genes ABCC2, ABCC5 and ABCG2, and drug resistance in epilepsy by genotyping comprehensive sets of tagging SNPs. A total of 25 tagging SNPs from ABCC2, ABCC5 and ABCG2 genes were genotyped in a total of 590 Han Chinese epilepsy patients (262 drug resistant and 328 drug r...

This study included 12 Chinese patients with a wide spectrum of phenotypes of tyrosine hydroxylase deficiency. Seven females and 5 males, aged 2.2 to 41 years, had phenotypes ranging from severe type with onset at infancy to mild type with onset after 3 years of age. Patients with the severe type had encephalopathy with poor treatment response or i...

Need for developing a case definition and guidelines for diarrhea as an adverse event following immunization [AEFI] Diarrhea, also spelled diarrhoea, is a common medical condition that is characterized by increased frequency of bowel movements and increased liquidity of stool [1,2]. Although acute diarrhea is typically self-limiting, it can be sev...

A young girl with antibodies to the N-methyl-D-aspartate receptor presented with a clinical syndrome suggestive of dyskinetic encephalitis lethargica with neuropsychiatric features at presentation, movement disorder, mutism, sleep disorder, and seizures. Persistent lesions in the white matter and pons were observed in magnetic resonance imaging of...

A selective approach is recommended for investigating children with GDD. Our objective is to identify clinical markers to improve the diagnostic yield of evaluation of children with GDD. Children with GDD (delay>2 S.D. in>1 domain) followed up in our centre were reviewed retrospectively. We selected nine clinical markers (sex, severity of GDD, pare...

Arecent study in Caucasians found an association between the single nucleotide polymorphism (SNP) of SCN1A, IVS5N +5 G>A (rs3812718), and febrile seizures (FS). We examined whether this and other tagging SNPs of SCN1A were associated with an increased risk of FS in Han Chinese. A total of 728 Han Chinese patients with focal epilepsy were recruited:...

To study the efficacy, safety, and compliance of short-term electro-acupuncture for children with autism spectrum disorder (ASD). Randomized, double-blind, sham-controlled, clinical trial. Children with ASD were randomly assigned to an electro-acupuncture (EA) group (n=30) or a sham electro-acupuncture (SEA) group (n=25) matched by age and severity...

Background: Parents of children with ASD sought for CAM treatment. (1) The approach in TCM is “holistic” with a philosophical background of balancing “Yin-and-Yang”. The patho-physiological basis aimed to improve “energy” or “body-flow” or “de-Qi”. Depending on the symptoms of ASD, clinical manifestations could be categorized into different TCM s...

We aim to study the efficacy of acupuncture versus sham acupuncture in children with autism spectrum disorder. A single-blind randomized control trial was conducted in 50 children. These children were randomly assigned to the treatment group with tongue acupuncture (40 sessions over 8 weeks) or the control group (sham tongue acupuncture to nonacupo...

Tyrosine hydroxylase deficiency is a rare neurotransmitter disorder affecting the rate-limiting step in catecholamine biosynthesis. There are about 40 cases reported worldwide. Here, we report the biochemical and molecular findings of eight unrelated Chinese patients with tyrosine hydroxylase deficiency. We have identified eight novel mutations wit...

OBJECTIVE: To identify predictors of antithrombotic treatment in neonates with cerebral sinovenous thrombosis (CSVT) in a large multinational study. STUDY DESIGN: Neonates with CSVT from 10 countries were enrolled in the International Pediatric Stroke Study from 2003 through 2007. Term neonates with CSVT who presented with neurologic symptoms or s...

Background: The purpose of the present study was to investigate the clinical pattern of Guillain-Barre syndrome (GBS) in southern Chinese children in Hong Kong and to compare the clinical outcome of early versus delayed intervention with i.v. immunoglobulin (IVIg). Methods: A retrospective review of medical records of GBS patients admitted to tw...

We piloted a 2-week "Autism-1-2-3" early intervention for children with autism and their parents immediately after diagnosis that targeted at (1) eye contact, (2) gesture and (3) vocalization/words. Seventeen children were randomized into the Intervention (n = 9) and Control (n = 8) groups. Outcome measures included the Autism Diagnostic Observatio...

A systematic review with the Sachett model of evidence-based medicine of the use of Botulinum toxin type A (BTX) for intervention in children with Cerebral Palsy (CP) is highlighted. Currently, the evidence showed that BTX is useful for treating pes equinus due to spasticity of the gastrocnemius-soleus muscles. However, careful patient selection an...

The safety and efficacy of thrombolysis after acute stroke in children have not been established. Our aim was to describe current practices and results of the use of alteplase for acute arterial ischaemic stroke in children enrolled in an international pediatric stroke registry and to compare current practices with those published in case reports a...

It remains controversial whether polymorphisms of the multidrug resistance gene ABCB1 are associated with pharmacoresistance in epilepsy. To further study the potential association, we genotyped a broad set of tagging SNPs, and explored whether any associations were affected by other host factors. We correlated any association with cerebral mRNA ex...

Prosopagnosia (PA), or the inability to recognize a familiar person by the face alone, had been considered to be a rare dysfunction mainly acquired by trauma to the brain. Recently we have shown that the congenital form of PA, which was considered to be even rarer, is common in Caucasians, with a prevalence of 2.5%. As these cases were familial we...

The objective of this study was to observe for efficacy, safety, and compliance of electroacupuncture for autism spectrum disorder (ASD). Two (2) children with ASD received electroacupuncture for 24 sessions over 8 weeks and were assessed pre- and postacupuncture. We defined a positive or negative change as an improvement or deterioration of 25%, r...

Many antiepileptic drugs (AEDs) prevent seizures by blocking voltage-gated brain sodium channels. However, treatment is ineffective in 30% of epilepsy patients, which might, at least in part, result from polymorphisms of the sodium channel genes. We investigated the association of AED responsiveness with genetic polymorphisms and correlated any ass...

A cross-sectional survey of the use of CAM by children was undertaken in the Duchess of Kent Children's Hospital in Hong Kong (March-December 2006). A questionnaire survey concerning the use of CAM was administered to chief caretakers (only the mothers) who accompanied children with neurodevelopmental disabilities followed up in our Neurodevelopmen...

To demonstrate the effect of acupuncture in a child with chronic Bell's palsy of 7 years duration. A 15-year-old girl had Bell's palsy for 7 years and did not respond to steroid treatment in the acute phase. On examination, her eyes were asymmetric, with the right eye smaller. Muscle contracture was noted around the right nasalis. She had synkinesi...

Several specialist clinic-based epidemiology studies suggested low prevalence in Hong Kong Special Administrative Region (HKSAR) of China. Population-based epidemiological data for epilepsy is not available. We performed the first population-based epidemiological survey of epilepsy in this locality. We conducted a territory-wide survey. We randomly...

Vanishing white matter disease is a rare neurological disease. The majority of patients reported are Caucasian individuals. We describe the first Chinese patient with typical clinical and radiological features genetically confirmed to have vanishing white matter disease for a mutation in EIF2B4, followed by a brief review of the disease.