What is the Angelman Syndrome Clinic?

The Angelman Syndrome Clinic is a collaboration between Neurology and Medical Psychology at BC Children's Hospital, serving children and adolescents across the province with Angelman Syndrome to support their overall health and development. We focus on issues around epilepsy, sleep, learning and behaviour. We provide families with tools to help their loved ones thrive in their community.

Beyond clinical supports, we provide opportunities for families to participate in our collaborative and active research program. We work closely with the Angelman Syndrome Clinic at the Children's Hospital of Eastern Ontario (CHEO) in Ottawa.

What services are provided by the Angelman Syndrome Clinic?

We will review medical and developmental issues that are common in Angelman syndrome. We will provide medical management advice and spend time discussing behavioural and learning challenges. We will make further referrals and organize testing as necessary. Our clinic is intended to support community care teams, including pediatricians, family physicians as well as referring neurologists.

Who is a part of the Clinic?

The clinic team consists of two pediatric neurologists, Dr. Cyrus Boelman and Dr. Linda Huh, two psychologists, Dr. Krista Johnston and Dr. Jennifer Engle, and a nurse clinician, Ms. Lynne Beszant. They are sometimes joined in the clinic by physicians who are training in pediatric neurology.

‎Who should be referred to the Clinic?

Infants, children, and adolescents with a diagnosis of Angelman syndrome should be referred. We hope to see each patient on an annual basis to support and not replace their regular medical team.

How can my child be referred to the Clinic?

Referrals are accepted from family physicians, pediatricians, and other specialists and should be sent to the Division of Neurology at BC Children's Hospital.

When will my child be seen once referred?

Our clinic is scheduled 3-4 times per year. Given the time we spend with each family, about 2 hours, we do not see a high volume of patients each clinic. However, we prioritize seeing new patients, as returning patients may be seen at other times, depending on their needs.

I don't live in Vancouver. Can my child be assessed by the Angelman Syndrome Clinic?

Yes. While our program is based at BC Children's Hospital in Vancouver, we offer Telehealth from hospital or home and community outreach appointments whenever possible.

Where can I find more information about Angelman Syndrome?

We encourage families to connect with the Canadian Angelman Syndrome Society at www.angelmancanada.org. An overview of Angelman syndrome can be found here: https://ghr.nlm.nih.gov/condition/angelman-syndrome

What is the Ketogenic Diet?

The Ketogenic Diet is a medical prescription diet that is very high in fat, moderate in protein, and very low in carbohydrate. It must be calculated for each patient individually by a Registered Dietitian. The diet must be followed very strictly to achieve the desired effect. Modified versions of the classic ketogenic diet (Modified Ketogenic Diet, Modified Atkins Diet, MCT Oil Diet, or Low Glycemic Index Treatment) may be better suited for older children and teenagers.

What is the Ketogenic Diet Used for?

The ketogenic diet can be used to treat a variety of medical conditions. At BC Children's Hospital, ketogenic diets are used to treat seizures that have not been controlled with medications. The ketogenic diet is also the treatment of choice for patients with certain genetic diagnoses such as Glucose Transporter Type 1 Deficiency Syndrome (GLUT-1 DS) and Pyruvate Dehydrogenase Deficiency (PDHD). Although the ketogenic diet may be used for children with any type of seizure, it is particularly effective in controlling childhood myoclonic, absence and atonic (drop) seizures. The diet has also been shown to be beneficial in other epilepsy syndromes such as Lennox-Gastaut and Dravet syndrome.

All ketogenic diets require careful medical supervision and direction from a specially trained physician and dietitian. Medical supervision requires ongoing bloodwork and monitoring to prevent adverse effects. The ketogenic diet should not be attempted without a specially trained team including a physician and a registered dietitian. Do not try to start the diet without medical supervision.

Who is a Candidate for the Ketogenic Diet?

Patients must be referred by a pediatric neurologist.

How can my child start on a ketogenic diet?

The first step is a referral to the ketogenic diet team from your child's pediatric neurologist. You and your child will then be seen by the ketogenic diet multidisciplinary team. The team will provide you with more information about the diet and determine whether or not your child is a good candidate for ketogenic dietary therapy.

Where can I find more information about ketogenic diets?

• BC Epilepsy Ketogenic Diet Information Sheet (PDF)
• Charlie's Foundation
• Matthew's Friends
• Book: Ketogenic Diets: Treatments for Epilepsy and Other Disorders Eric H. Kossoff, John M. Freeman, Zahava Turner, James E. Rubenstein
• Borrow this book from the BC Children's and Women's Family Library

Who can I contact about BC Children's Hospital's Ketogenic Diet Program?

Speak to your pediatric neurologist to discuss whether the ketogenic diet would be a good fit for your child.

I don't live in Vancouver. Can my child be on the ketogenic diet?

Yes. While our program is based at BC Children's Hospital in Vancouver, we offer telehealth and community outreach appointments to patients and families across BC and Yukon.

What is the Neuro-oncology Program?

The Neuro-oncology Program is a cohesive collaboration between oncology and neurosciences at BC Children's Hospital, serving children and adolescents across the province with brain, spinal cord and nerve sheath tumours. We also address neurological issues that arise in children and adolescents with cancer. In addition, we serve those with nervous system tumour predisposition syndromes and collaborate with other disciplines to optimise their care. We focus on the best curative treatment of the tumour or cancer whilst aiming to mitigate the short term and long term adverse effects of the tumour and its therapy to provide children and adolescents the best chance possible to thrive with their family, in school, and in their community.

Hand in hand with providing compassionate holistic multidisciplinary care, we offer the opportunity for our patients to participate in local, international and national clinical trials as we strive to advance the care of children with nervous system tumours or neurological consequences of their cancer therapy.

What services are provided by the Neuro-oncology Program?

We will evaluate the tumour type and tumour burden, your child's neurological function and general health. We will provide medical care and advice, collaborating with multidisciplinary teams to provide the complex care when required. We are a resource and support local community care teams including pediatricians, oncologists, and family physicians to allow care to be provided in the local community when possible.

Who should be referred to the Neuro-oncology Program?

Children and adolescents with a new diagnosis of a brain tumour, spinal cord tumour, neurofibromas or schwannomas. Children and adolescents with cancer or a tumour predisposition syndrome PLUS neurological dysfunction.

How can my child be referred to the Neuro-oncology Program?

New diagnosis of a brain or spinal cord tumour requiring urgent care should be referred to Divisions of Neurosurgery or Oncology at BC Children's Hospital.

If the patient has a tumour secondary to tumour predisposition syndrome such as neurofibromatosis or tuberous sclerosis, the patient may be referred on a non-urgent basis to the Division of Neurology at BC Children's Hospital and will be seen in the respective Tuberous sclerosis or Neurofibromatosis clinics.

Multidisciplinary tertiary/quaternary care is coordinated as needed for the benefit of patient care.

If the child or adolescent has cancer and a neurological disorder they should be referred to the Neurology division at BC Children's Hospital.

Who can I contact about BC Children's Hospital's Neuro-oncology Program?

On referral by your pediatrician or family physician your child will be triaged to see the appropriate specialist in the team for your child's condition.

I don't live in Vancouver. Can my child be assessed by the Neuro-oncology Program?

While our program is based in Vancouver at BC Children's Hospital and most often your child will need to attend BC Children's Hospital for evaluation by various specialists, testing and treatment, we offer outreach and virtual health when possible.

Where can I find more information about the Neuro-oncology Program?

We encourage families to connect with:

• Brain and spinal tumour information
• Follow-up clinics
• www.braintumour.ca
• www.tumourfoundation.ca

What is the Sleep Medicine Program?

The BC Children's Hospital Sleep Medicine Program is a multidisciplinary program serving children across the province with sleep problems such as sleep apnea, insomnia, hypersomnia (such as narcolepsy), restless legs syndrome, and parasomnia (unusual behaviours occurring from sleep), among others. It is the only program in British Columbia that is specifically dedicated to the treatment of children with sleep disorders.

The program is committed to improving the delivery of clinical care, and is closely tied to the Sleep At Home research initiative, which is dedicated to identifying and validating new technologies to bring sleep testing closer to the patient’s home.

What services are provided by the Sleep Medicine Program?

The Sleep Medicine Program provides both clinical assessments and objective testing. Over 600 clinic visits take place per year. In addition, nearly 400 overnight sleep studies (polysomnography) are performed annually. Other tests, including multiple sleep latency tests (MSLT), home oximetry, and actigraphy, are also provided.

Who is in the program?

Four physicians are currently part of the program, including one pediatric neurologist, Dr. James Lee, a fellowship-trained sleep specialist. He has a particular interest in hypersomnia, the interaction of epilepsy and sleep, insomnia, and sleep difficulties in children with neurological disorders. Dr. Lee sees patients in the Sleep Medicine Clinic, which is located within the Respiratory Medicine Clinic, weekly. He also does sleep assessments in the Neurology Clinic.

Who should be referred for a Sleep Assessment?

Infants, children, and adolescents with snoring or breathing problems during sleep, difficulty falling or staying asleep, daytime sleepiness, or abnormal nighttime behaviours can be referred to the Sleep Medicine Clinic. Referrals are accepted from family physicians, pediatricians, and other specialists.

How can my child be referred to the Sleep Medicine Program?

Referrals to Dr. Lee can be sent to either the Division of Neurology or the Division of Respiratory Medicine. General sleep referrals should be sent to the Division of Respiratory Medicine.

I don't live in Vancouver. Can my child be assessed by the Sleep Medicine Program?

Yes. If your child needs a coordinated test, such as an overnight sleep study, they can be seen in the clinic the day before or after the study takes place. Selected patients can be seen by Virtual Health, which allows them to be assessed from home, without the need to travel to Vancouver.

What is the Spinal Cord Clinic (SCC)?

The SCC is a provincial program that serves children from birth to age 18 who have a disorder of the spinal cord either due to causes such as spina bifida, VACTERL syndrome and others, or due to trauma, infection or tumours of the spinal cord. This program was initiated over 30 years ago by Dr. Arnold and Dr. Cochrane to address the many varied medical and care needs children with various spinal conditions have.

Spinal cord conditions affect a child’s bowel and bladder function, as well as their sensation and ability to move their arms and legs. Some conditions can additionally affect cognition, bone growth, and general development. The areas of need vary depending on the individual child, but are often complex and require ongoing monitoring to optimize your child’s health and daily function.

What services are provided by the SCC?

Patients with a disorder of the spinal cord require a large variety of services. Our group of specialized care providers are able to address your child’s medical needs in a comprehensive manner all in one morning visit. This improves the communication and coordination of services and treatments, cuts down on the time you need to take off work or miss school to see various specialists, and provides continuity of care. Clinics run from 8 am to 12 noon every Thursday.

All patients are seen at regular intervals and remain in the clinic until they graduate and transition to adult care, usually by age 18.

We provide:

1. A comprehensive assessment of your child’s physical, surgical, social and emotional needs.
2. We provide regular scheduled follow up and surveillance of bladder, orthopedic and neurological complications that may arise.
3. We monitor general growth and development related to the specific spinal cord condition.
4. We communicate and coordinate care with your medical providers in your community, such as family doctor, pediatrician, child development centres, therapists, orthotists and school.
5. We help with transition to adult care providers.
6. We work in conjunction with the maternal fetal medicine and medical genetics teams to provide prenatal counselling.
7. We provide guidance regarding rehabilitation methods and opportunities.

Who is in the program?

The SCC operates as an interdisciplinary program, which means that we work together as a group of specialists, pediatricians and therapists. The group consists of three pediatric urologists, three neurosurgeons, an orthopedic surgeon, two physiatrists and two pediatricians as well as a nurse, social worker, occupational therapist and physiotherapist.

• Our urology team monitors kidney and bladder health with regular ultrasounds, urodynamics and advises on techniques to manage bladder continence and health.
• The neurosurgical team monitors the function of the spinal cord as well as any issues of the brain, such as hydrocephalus.
• Our orthopedic surgeon has special expertise in low extremity complications associated with spinal cord injury (SCI) and will perform the necessary surgeries. Spinal deformities, such as scoliosis, are referred to the spine surgeons at BCCH.
• Our pediatricians will address general growth and developmental concerns as well as advise on bowel management and specific issues related to SCI.
• Pediatric physiatrists specialize in rehabilitation issues related to SCI and provide monitoring of growth and advise on specific rehab modalities your child may benefit from.
• Our physiotherapist and orthopedic surgeon work closely together to monitor growth, strength, need for splints and other mobility devices such as walkers or wheelchairs. They work with your community team to optimize therapies.
• Our occupational therapist monitors upper extremity use, provides developmental screening, works with the team on school integration and feeding related issues.
• Our social worker provides social and emotional support for you as a family and your child. Their role includes psychosocial assessments, supportive counseling, connections to funding and practical supports, and liaising with community resources.
• Our clinic nurse is the coordinator of our team. She is the point of contact for you with questions and concerns. She provides nursing specific information for your child and family and ensures follow up and tests are coordinated.
• Our clinic clerk books appointments and works with the nurse to ensure you get to your appointments at the right time and right place.

We have access to a nutritionist and other specialists as needed. We work with orthotists in the community to make splints and mobility devices.

Who should be referred?

Generally, we accept referrals from other physicians after a diagnosis of a spinal cord condition has been confirmed. The patient will be in need of several disciplines such as a urologist, orthopedic surgeon and /or neurosurgeon as well as specialized rehabilitation services. Each referral is screened. Neuroimaging and a neurological assessment are generally required to evaluate the need for coming to the SCC.

How can my child be referred?

A letter of referral with supporting documentation of a spinal cord injury is required.

Who do we serve?

We serve all children in the province of B.C. as well as the Yukon territory.

Does the service cost money?

No, this clinic is an MSP covered service and all children who have MSP coverage and are residents of BC can access this service at no cost. Travel and parking expenses are not covered. If there are concerns about financial hardship, these can be addressed by our social worker to ensure your child gets access to the clinic services