Abstracts of Satellite Symposium of the Joint Congress of ICNA & AOCNA 2002 Hong Kong

Department of Pediatrics and Neurology, University of California, Irvine, USA

The Child Neurology Society and American Academy of Neurology convened a committee to formulate Practice Parameters for the Diagnosis and Evaluation of Autism. This endeavor was expanded to include representatives from nine professional organizations and four parent organizations, with liaisons from the National Institutes of Health. The document was written by this multidisciplinary Consensus Panel after systematic analysis of over 2500 relevant scientific articles in the literature. The Panel

Division of Pediatric Neurology, Wayne State University, USA

Approximately 25–30% of children with infantile autism also have seizures at some point during their life. In addition, up to two-thirds of children with autism may have an abnormal electroencephalogram (EEG). In general, the seizures in infantile autism are relatively infrequent, are not difficult to control with anticonvulsant medications, and often emerge at adolescence. Valproic acid is often the preferred medication because not only is it effective for seizure control but it may also

Department of Pediatric Neurology, ‘Tor Vergata’ University of Rome, Italy

Tuberous sclerosis complex (TSC) is a disorder of cell migration, proliferation and differentiation, resulting from mutations in TSC1, the gene on chromosome 9q34 and in TSC2, the gene on chromosome 16p13. Autism is a genetically heterogeneous, polygenic developmental disorder characterized by stereotypical behaviours, impairment in social interaction and impairment in communication. Studies of TSC children have identified rates of autism ranging from 17 to 61%.

About 3–5% of autistic children

Department of Pediatric and Radiology, Wayne State University, USA

Autism is a developmental disorder defined by the presence of a triad of communication, social and stereotypical behavioral characteristics with onset before 3 years of age. Previous estimates of the incidence of autism were two to five cases per 10 000 individuals. Recent studies show a higher incidence of autism (approximately 1–2 in 1000), while the three to four times predominance of the disorder in males has remained constant. Underlying the spectrum of autistic behaviors are undoubtedly

Child and Adolescent Psychiatric Team, Kwai Chung Hospital, Hong Kong

Autism is a neurodevelopmental disorder. Current researches had pointed to a strong physical basis. Genetic studies have shown a higher concordance rate amongst MZ twins as compared to DZ twins. Family studies have shown a higher rate of subtle and not-so-subtle social and communication deficits and stereotypic behaviours. Molecular biological studies indicated that many genes may influence the phenotypic manifestation and it may be years before we can really find the genes.

Recently, it is a

Child Assessment Service, Department of Health, Hong Kong

It is essential to recognize the importance of autistic children's social deficits: their social isolation, atypical attachment, and the absence of basic social skills such as making eye contact, capacity to engage in cooperative play, recognizing social emotional cues in others. It is not surprising that parents and professionals alike consider that social interaction opportunities and social skill enhancement efforts are essential for children and youth with autism. There are two primary ways

Heep Hong Society, Hong Kong

Language development has been the big worry of most parents of children with autism usually, no matter they are verbal or non-verbal. Knowing the language characteristics of children with autism helps identifying their communication problems and thus planning appropriate intervention. With more knowledge of the basic but essential training skills (for example, expecting the child to communicate, structuring environment, following the child's lead), antecedent strategies (for example, placing

Heep Hong Society, Hong Kong

Children with autism may have behavioral problems, unstable emotion or ‘inappropriate’/unusual responses to environmental stimuli. Some of these problems may be related to their difficulties with sensory processing.

Sensory processing includes the process in regulating, modulating or discriminating the sensory inputs in the central nervous system. Findings from research show that children with autism have different response towards sensory experience from those without autism. Any disturbance in

Tung Wah Group of Hospitals, Hong Kong

An intervention programme was designed to teach students understanding other's mental states in a special school. In order to facilitate student's leaning, the understanding of mental states was divided into tree components. They were emotion, belief and pretence. Each conceptual component was ordered into five successive levels of understanding. The present training programme was emphasized on the emotion and belief components. In addition, the principle that ‘seeing leads to knowing’ was also

Department of Paediatrics, The University of Hong Kong, Hong Kong

Measles vaccine has been introduced in Hong Kong since 1967, before which measles occurred in epidemics biennially with attack rate at 524 per 100 000 for children aged 1–4 years from 1961 to 1967. Despite only moderate coverage levels of measles vaccination (50–55%) during the late 1960s and 1970s, the overall incidence rates have reduced dramatically. The interepidemic durations have increased from 2 to 3–6 years because of the increased time required for the accumulation of enough

Brown University School of Medicine, USA

Aim: The International Treatment Study on SSPE aims to compare the efficacy of inosiplex (isoprinosine, Newport Pharmaceutics, Dublin; Arm 1) with inosiplex combined with intraventricular alpha interferon 2b (Intron A, Schering-Plough, New Jersey; Arm 2).

Methods: From July 1996 to October 2000, 121 patients who met diagnostic criteria for SSPE were randomized into either Arm 1 (n=62) or Arm 2 (n=59). Inclusion criteria were Stage II SSPE, or better. Stage, neurological disability index (NDI),

Department of Paediatrics, The Duchess of Kent Children's Hospital, Hong Kong

The use of mechanical ventilation to maintain or prolong life in neuromuscular diseases had been a subject of controversy in the early eighties in Hong Kong.

The main issue of controversy was related to poor quality of life perceived by health care professional. Children who suffered from neuromuscular diseases were often allowed to take its natural course without active treatment and resulted in early death. Teenagers with muscular dystrophy had to learn to face the threat of death and

Department of Paediatrics, The Duchess of Kent Children's Hospital, Hong Kong

Nearly all patients who suffered from neuromuscular disease with onset in childhood will eventually develop respiratory failure. Most of the time, this occurs during otherwise benign upper respiratory tract infection. Some patients will develop respiratory failure gradually with symptoms and signs of hypoventilation. In the past, most of them were not offered any active treatment because of poor perceived poor quality of life by health care professionals. This might not only result in premature

Department of Paediatrics and the Medical Research Council Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Campus, United Kingdom

Introduction: Several studies have described the outcome of infants with neonatal encephalopathy (NE) In these studies, links between later outcome, apgar scores and the grade of encephalopathy were demonstrated but brain imaging data was often not available. We have recently reported that brain magnetic resonance imaging (MRI) findings are much better predictors of outcome at two years than apgar scores or the degree of encephalopathy. In most previous studies, including our own, the quality

Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Campus, United Kingdom

For the past decade molecular geneticists have assured us that gene therapy is just round the corner. Each year the corner seems further away. Every new technological advance, for replenishing the gene or its product, seems to generate the same cycle of hype and hope, followed by disappointment and disillusion. One problem seems the inordinate rush from limited animal studies to human experiments, usually confined to a single muscle, and emotively called therapeutic trials.

The technological

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, USA

Spinal muscular atrophy is an autosomal recessive disease caused by deletions and other mutations in the ‘survival motor neuron’ (SMN) gene on chromosome 5. Although SMN is widely expressed and highly conserved, the clinical manifestations of SMN mutations are limited to muscle weakness dueto motor neuron degeneration. Patients with more severe disease manifestations and earlier onset (spinal muscular atrophy Type 1, or Werdnig–Hoffmann disease) have lower levels of SMN protein than patients

Department of Paediatrics, Tuen Mun Hospital, Hong Kong

A 10 years old boy was referred to our unit due to generalised muscle weakness and left ptosis. His perinatal history was uneventful with normal fetal movement and his birth weight was 8 lb. Early developmental history was age-appropriate. He started to have first single word at 8 months, sit at 6 months, cruise at 9 months and walk alone at 13 months, but then his gross motor development became static. He had never been able to walk up stairs without using support even up to now. In fact, he

Private Practice, Hong Kong

Case: Howard Fok (Male/11 years old).

My son, Howard was diagnosed to be suffering from the acute infantile form of SMA (Werdnig–Hoffmann disease) at the age of 2 months. At that time, back in 1991, the general consensus in the medical community regarding the management of this group of children is to leave them for nature to take its course. Howard went into respiratory failure at 5 months, and the doctors in charge were divided in their opinions as to whether Howard should be ventilated.

Department of Paediatrics, The University of Hong Kong, Hong Kong

Marfan syndrome (MFS) is an inheritable disorder of the connective tissue. MFS lies at one end of a phenotypic continuum, with some people in the general population who have one or more features of MFS; and at the other end, those with a variety of other features in between. Diagnosis of MFS is based on clinical features. The Marfan phenotype is usually associated with deletions of the fibrillin-1 (FBN1) gene on chromosome 15, which encodes FBN1. In addition to skeletal, ocular and

Department of Paediatrics, Princess Margaret Hospital, Hong Kong

We present the clinical, radiological and histopathological features in two siblings affected by a severe form of brain, eye and neuromuscular disorder. Both infants were profoundly hypotonic at birth with bilateral clawing of fingers, knee contractures, and oedema. There was virtually no spontaneous movements apart from occasional eye opening and subgravity movement of the shoulder girdle. Painful stimuli failed to elicit any movement or change in heart rate. They both had decreased muscle

Department of Paediatrics, Pamela Youde Nethersole Eastern Hospital, Hong Kong

A 10 year-old girl presented with a 6-month history of asymmetrical muscle weakness and wasting over her proximal limb girdles and four limbs. The right side of her body was more involved. She was the first child of a healthy Chinese couple and the perinatal history was unremarkable. She had chickenpox at 4 years old and an episode of neck stiffness at 6 years old but investigations including X-ray and MRI were normal. The neck stiffness resolved spontaneously over 1 week. She had

Department of Paediatrics, United Christian Hospital, Hong Kong

WSW is a 6 years old girl who presented at 4 years old with progressive ataxia for a few months with clumsiness in writing, running and jumping. She was well at birth and her early development was normal. She did not have convulsion or any other major illnesses. There was no hearing or visual problems and her cognitive function was age appropriate. Her elder sister was healthy and there was no family history of central nervous system disorders. The grandparents of father and mother were

Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong

We report an 18-year-old boy who has episodic burning pain over his feet accompanied by redness and warmth of the skin since early childhood.

The pain is precipitated by heat or physical activities and relieved by cooling the extremities. Hypohydrosis has been present with minimal sweating over axillae and palms. The nerve conduction study of the peripheral nerves was normal and the diagnosis of Fabry disease was excluded by normal alpha-galactosidase level. Various medications included aspirin,

Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong

A girl presented with congenital generalized weakness was medically assessed when she was 5 years old. Examination showed a weak wasted muscles with a power of grade 2 at all limbs. There was facial diplegia, marked ptosis, extraocular palsy in all directions and limited tongue movements. Her proximal muscles were also weak and a marked thoraco-lumbar scoliosis was present. Her cardiovascular system was normal. She had mild constipation but otherwise the sphincters were uninvolved. Hearing,

Department of Paediatrics, The University of Hong Kong, Hong Kong

Background: There is a general public awareness of an increasing incidence of autism in Hong Kong. We are not sure whether this is due to improvement in diagnosis at a younger age due to public awareness or a genuine increase in incidence.

Objective: We aimed to analyze the clinical profile of children with ASD seen during the 22 years period (1981–2002) in the University of Hong Kong in order to clarify whether there is an increasing incidence of ASD locally.

Method: A retrospective record

Journalism and Media Studies Centre, The University of Hong Kong, Hong Kong

There is tremendous amount of information and disinformation in the media on the relation between autism and vaccines, especially over the Internet. A random search using keywords ‘vaccines’ and ‘autism’ yields over 20 200 websites in 0.12 s in the search engine Google. An increasing number of young parents are using the Internet as a source of health information.

In Britain, the scare over the association between MMR and autism has resulted in a heated debate in the lay media. In the US

Child Developmental-Behavioural Centre, The Third Affiliated Hospital of Sun Yat-sen University, China

Over the past 3 years, according to criteria of DSM-IV, 927 children were diagnosed as PDD. Among them are 826 cases of typical autism, 56 cases of asperger syndrome, five cases of Heller's disease, three cases of Rett syndrome and 37 cases of PDD-Nos. The sex ratio is 6.5:1 (male:female). Their age ranged from 1–13 year with an average age of 4 years old. We explored the aetiology of PDD. Pedigree analysis, chromosome detection, EEG, CT scan and SPECT were used. We found four cases of

Occupational Therapy Department, Prince of Wales Hospital, Hong Kong

Introduction: Duchenne's muscular dystrophy (DMD) is one of the fatal progressive muscular dystrophy, resulting in progressive muscle weakness from pelvic girdle, legs to shoulder girdle. Children are referred to Seating Clinic when wheelchairs are needed, which is run by a multidisciplinary team including paediatric orthopedic surgeon, occupational therapist, physiotherapist, prosthetist and orthotist and rehabilitation engineer to prescribe wheelchairs for individual needs.

Objectives:

• 1.

  to

Department of Paediatrics, The University of Hong Kong, Hong Kong

A 2-year-old boy was admitted for truncal and hand tremor associated with low grade fever, coryzal symptoms and vomiting for 2 days. He was found to have unsteady gait, intentional tremor, past pointing and dysdiadochokinesia. No meningeal irritation signs noted. He developed a few vesicular skin eruptions on the sole and palms 3 days later only after careful examination. However, no lesions were detected in the mouth all through the clinical course. An atypical form of HFMD was diagnosed

Department of Paediatrics, The University of Hong Kong, Hong Kong

SSPE is a rare neurodegenerative condition occurring years after childhood measles infection. The incidence is 1 per million. It is usually seen in developing countries.

Objective:

• 1.

  to perform a territory wide survey on the prevalence of SSPE in Hong Kong and Macau;

• 2.

  to coordinate the establishment of the Eastern Branch of the International SSPE Registry.

Methods: Over the past 2 years, we have seen two cases of SSPE presenting with unusual presentation. In 2000, a 12-year-old boy presenting with

Occupational Therapy Department, Princess Margaret Hospital, Hong Kong

In the recent decades, there are increasing varieties of intervention of spasticity in order to improve upper extremity function, prevent or correct deformities. However, the instruments to provide baseline evaluation of the upper extremity function are still controversial among individual centres. In view of the need to have a widely acknowledged and comprehensive assessment to document the effectiveness of intervention programmes in Hong Kong, the Child and Adolescent Working Group, OTCOC has

Department of Paediatrics, The University of Hong Kong, Hong Kong

We report a 3 years 4 months old girl who presented with recurrent high swinging fever since 2 months with no focus of infection identified despite repeated sepsis workup. She failed to cry even with needling procedures for blood taking and lumbar puncture. She was born of non-consanguineous Chinese parents with normal perinatal history. There was no relevant family history of significance. Neurological examination showed mild hypotonia, left eye ptosis and complete absence pain and decreased

Department of Paediatrics, The University of Hong Kong, Hong Kong^a

Background: There is an increasing incidence of autism in Hong Kong over the past 10 years. Children are often suspected of having autistic features at an earlier age (say, 12–15 months). Early screening, diagnosis, and intervention, hopefully can alleviate parental anxiety and improve the core features of autism.

Objective: To start a pilot project of collaboration between two centers, namely, Duchess of Kent Children's hospital (Children Habilitation Institute) and Heep Hong Society in

Department of Paediatrics, The University of Hong Kong, Hong Kong

Objective: To analyze the clinical features, investigations, treatment strategies and outcome of Chinese children with MG in Hong Kong. A comparison was made between Chinese and Caucasians.

Method: A retrospective review of all children with MG actively followed up in the Child Neurology Clinic of the University of Hong Kong (Queen Mary Hospital and Duchess of Kent Children's Hospital) for 20 years (1992–2002) was conducted.

Results: Altogether, 57 cases were identified. The female: male ratio

Occupational Therapy Department, Princess Margaret Hospital, Hong Kong

Objectives: The parents and teachers in Hong Kong have increased their awareness of perceptual motor problems in children. These problems would affect their achievements in school, at home and even play. Hence, the number of referrals of early aged children for Occupational therapy is also increased. These children may be later diagnosed as suffering from developmental coordination disorders or specific learning disabilities. Among different treatment approaches, perceptual motor approach is

Department of Paediatrics, The University of Hong Kong, Hong Kong

Objective: To study the prevalence of neuromuscular disorders in Hong Kong Chinese children.

Methods: All cases of neuromuscular disorders (NMDs) seen in Queen Mary Hospital and Duchess of Kent Children's Hospital from 1985 to 2001 were reviewed.

Results: A total of 332 children with various neuromuscular diseases were included in the study. Out of these 332 children, 228 (68%) had inherited NMDs and 104 (32%) had non-inherited NMDs. Amongst the inherited NMDs, the commonest is the

Children Habilitation Institute, Duchess of Kent Children's Hospital, Hong Kong

This is an electronic communication centre on muscular dystrophy (MD). It is a joint project between Clinical Psychology Unit and Community voluntary Service of Duchess of Kent Children's Hospital with the help of MD patients and volunteers.

Purpose:

• 1.

  to enhance partnership among three parties – MD patients, Hospital, and indirectly the general public;

• 2.

  to enhance community awareness and knowledge about MD;

• 3.

  to promote community acceptance and appreciation towards MD patients;

• 4.

  to help building up

Department of Paediatrics, United Christian Hospital, Hong Kong

PY was born to a pair of non-consanguineous parent. Her antenatal history was unremarkable. She developed lethargy and repeated desaturations on day 2, necessitating ventilator support. On physical examination, she was hypotonic and weak but all her reflexes were normal. A few days later, her reflexes became brisk and she started to have intractable seizures.

Based on the clinical findings of non-paralytic hypotonia and hyper-reflexia, we suspected that the level of lesion lied in the central

Department of Paediatrics, Princess Margaret Hospital, Hong Kong

We would like to report a 18 months old Chinese girl with severe hypotonia, optic atrophy, global developmental delay, gastroesophageal reflux and recurrent aspiration pneumonia. She was born at 36 weeks of gestation by normal delivery with birth weight of 2.27 kg. Parents are not consanguineous. She had no birth asphyxia. She was noted to be floppy and delayed in development since early infancy. Initially she could take oral feeding satisfactorily but she deteriorated and required tube feeding

Department of Paediatrics, Child Assessment Center, Duchess of Kent Children's Hospital, Hong Kong

Objective: Benign epilepsy with centro-temporal spikes (BECT) is one of the most common forms of epilepsy with childhood onset. It is associated with an excellent prognosis with seizure remission during adolescence. However, BECT is believed to be linked to diseases such as Landau Kleffner syndrome (LKS) and electrical status epilepticus during sleep (ESES) with BECT at the benign end of the spectrum and LKS and ESES at the other end with high risk of cognitive dysfunction. Various studies have

Child Developmental-Behavioral Centre, The Third Affiliated Hospital of Sun Yat-sen University, China

To improve the developmental outcome of autistic children, a home based structured teaching (ST) programme was carried out. This ST programme is a Chinese revision of TEACCH introduced by Heep Kong Society of Hong Kong. Sixty children were enrolled. Thirty of them received 6 months training. The other 30 autistic children were designed as control group. In ST group, the children were firstly assessed and then the parents were trained to make the training plan, organise the environment, prepare