Life Stages - read
Raising awareness
We don't want to be different but we've no choice.
Most of us were 'punished' for bearing special children, the costs to raise them are enormous. Parents had to take means testing before Spore govt 'kindly' offer a helping hand. Make a comparison:
* Cost of a normal stroller/pram vs a special needs buggy or transporter
* education
* Cost of a childcare centre & operating hours vs Daycare Centre (DAC)
* enrichment programmes vs therapies
Hear from another Angelman family - video
Watch 前线追踪 Frontline, MediaCorp
Other special needs - RDSS
Can you understand our frustrations, agony and struggles?
21 Nov 2015
Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanor. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15. AS is named after a British pediatrician, Dr. Harry Angelman, who first described the syndrome in 1965.
An older, alternative term for AS, happy puppet syndrome, is generally considered pejorative and stigmatizing so it is no longer used, though it remains useful as a diagnostic heuristic. People with AS are sometimes known as "angels", both because of the syndrome's name and because of their youthful, happy appearance.
Can Angelman syndrome be inherited?
Most cases of AS are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family.
Rarely, a genetic change responsible for AS can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby region of DNA that controls gene activation to be passed from one generation to the next.
What is chromosome 15?
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. A child inherits two sets of chromosomes – one set from each parent. AS occurs due to one of several scenarios, including when:
- A section of genetic material is missing from the copy of chromosome 15 inherited from the mother. This is the most common scenario. Note that the mother’s chromosome 15 is normal, and the genetic material is lost during the development of the egg.
- The child inherits two copies of chromosome 15 from their father and none from their mother. This happens occasionally.
- The child may inherit one chromosome 15 from each parent, but the chromosome from the mother works in the same way as the chromosome from the father.
- In 20–30 per cent of cases, there is no cause found. Some of these people have a fault (mutation) in a gene called UBE3A on chromosome 15.
The chromosomes in your body all hold genetic codes for specific organs and functions. Most chromosomal disorders occur because of an alteration affecting a specific chromosome in a regular cell or a sex cell. Such alterations can include an extra chromosome, a deleted chromosome, or even a missing part of a chromosome.
Angelman Syndrome, deletion of chromosome 15 from the mother.
Prader-Willi syndrome, chromosome 15 is deleted from the daddy.
Who gets it?
Affects approximately 1 in 25,000 people
What are the symptoms?
Stiff, unstable jerky gait, absent or diminished speech skills, hand flapping, excessive laughter/unusually happy demeanor, developmental delay, short attention span and small head size (microcephaly). Most AS develop epilepsy and have problems with balance. Sleep disorder can also occur.
Parents and doctors may notice a developmental delay between the ages of 6 and 12 months but because some normal children (KKH felt it is common so when my queries were raised when child was 6 months old, I was brushed aside) don't reach developmental milestones so a diagnosis cannot be made. Brain scan, EEG and FISH test were ordered at KK Hospital when my girl was 11 months old.
Children with AS may also have a fascination with water, love music, and be attracted to shiny objects. Some children may have an increased sensitivity to heat. As children with AS age, progressive side-to-side curvature of the spine (scoliosis) may become apparent. Puberty is usually unaffected in children with AS and fertility is possible.
Note: Other chromosome disorders can also mimic some of the features of Angelman syndrome, especially the 22q13.3 deletion (Phelan-McDermid syndrome). This condition may present with nondysmorphic facial features, absent or minimal speech, and moderate to severe developmental delay, sometimes with behavioral features in the autism spectrum. Microdeletions of the 2q23.1 region may result in severe speech delay, seizures, behavioral disorders and microcephaly.
What are the diagnostic criteria for Angleman Syndrome?
Developmental delay, functionally severe (100%)
Speech impairment, none or minimal use of words; receptive and non-verbal communication skills higher than verbal ones (100%)
Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs (100%)
Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span (100%)
Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2 (80%)
Seizures, onset usually <3 years of age (80%)
Abnormal EEG, characteristic pattern with large amplitude slow-spike waves (usually 2-3/s), facilitated by eye closure (80%)
Flat occiput (20-80%)
Occipital groove (20-80%)
Protruding tongue (20-80%)
Tongue thrusting; suck/swallowing disorders (20-80%)
Feeding problems during infancy (20-80%)
Prognathia (20-80%)
Wide mouth, wide-spaced teeth (20-80%)
Frequent drooling (20-80%)
Excessive chewing/mouthing behaviors (20-80%)
Strabismus (20-80%)
Hypopigmented skin, light hair and eye color (compared to family), seen only in deletion cases (20-80%)
Hyperactive lower limb deep tendon reflexes (20-80%)
Uplifted, flexed arm position especially during ambulation (20-80%)
Increased sensitivity to heat (20-80%)
Sleep disturbance (20-80%)
Attraction to/fascination with water (20-80%)
Diagnosis/testing
About 80% of cases can be confirmed through a variety of specialized blood tests such as DNA methylation (detects, but does not discriminate between chromosome deletion, imprinting center defect and paternal uniparental disomy). Fluorescent in situ hybridization (FISH) or comparative genomic hybridization can detect the characteristic deletion (seen in 70% of cases) of chromosome 15q11-q13 in cells of the body. Mutation analysis of the Angelman gene, UBE3A, can detect about 10% of individuals with Angelman syndrome who have negative DNA methylation studies.
What is the treatment?
There is currently no cure available. The epilepsy can be controlled by the use of one or more types of anticonvulsant medications -sodium valproate (Epilim), clonazepam and ethosuccimide are some of the drugs in common use. However, there are difficulties in ascertaining the levels and types of anticonvulsant medications needed to establish control, because AS is usually associated with having multiple varieties of seizures, rather than just the one as is normal cases of epilepsy. Many families use melatonin to promote sleep in a condition which often affects sleep patterns. Many individuals with AS sleep for a maximum of 5 hours at any one time. Early intervention with physiotherapy is important to encourage joint mobility and prevent stiffening of the joints. Occupational therapy, speech therapy, hydrotherapy and music therapy are also used in the management of this condition.
People with Angelman syndrome will have a near-normal life expectancy but will need looking after throughout their lives.
Can Angelman Syndrome be prevented?
Most cases of AS are caused by spontaneous genetic mutations, there is currently no known way to prevent the disease. Genetic counseling to assess risks to siblings and other family members is based on knowing the mechanism involved in causing the loss of expression of this genetic region at the molecular level. Recurrence risks to parents and extended family members vary from a negligible risk of recurrence to a possible 50% risk.
Should I be worried about chromosomal disorders?
Increased risk factors for chromosomal disorders include: becoming pregnant at 35 years of age or older, a family history of chromosomal anomalies, and/or having had multiple miscarriages or stillborn children.
Living with Angelman Syndrome
Although a diagnosis of AS is life-changing, it does not need to be life-destroying. Those with the syndrome are generally happy and contented people, who like human contact and play. People with AS exhibit a profound desire for personal interaction with others. Communication can be difficult at first, but as a child with AS develops, there is a definite character and ability to make themselves understood. It is widely accepted that their understanding of communication directed to them is much larger than their ability to return conversation. Most afflicted people will not develop more than 5-10 words, if any at all.
Actor Colin Farrell, author Ian Rankin, professional baseball player Dave Henderson, and professional hockey player Peter McDuffe have sons with AS.
The severity of the symptoms associated with AS varies significantly across the population of those affected. Some speech and a greater degree of self-care are possible among the least profoundly affected. Unfortunately, walking and the use of simple sign language may be beyond the reach of the more profoundly affected. Early and continued participation in physical, occupational (related to the development of fine-motor control skills), and communication (speech) therapies are believed to improve significantly the prognosis (in the areas of cognition and communication) of individuals affected by AS.
The clinical features of Angelman syndrome alter with age. As adulthood approaches, hyperactivity and poor sleep patterns improve. The seizures decrease in frequency and often cease altogether and the EEG abnormalities are less obvious. Medication is typically advisable to those with seizure disorders. Often overlooked is the contribution of the poor sleep patterns to the frequency and/or severity of the seizures. Also noteworthy are the reports that the frequency and severity of seizures temporarily escalate in pubescent AS girls but do not seem to affect long-term health. The facial features remain recognizable but many adults with AS look remarkably youthful for their age.
Puberty and menstruation begin at around the average age. Sexual development is thought to be unaffected, as evidenced by a single reported case of a woman with AS conceiving a female child who also had AS.
Many people with AS improve their living skills with support. Dressing skills are variable and usually limited to items of clothing without buttons or zippers. Most adults are able to eat with a knife or spoon and fork and can learn to perform simple household tasks. General health is fairly good and life-span near average. Particular problems which have arisen in adults are a tendency to obesity (more in females), and worsening of scoliosis if it is present. The affectionate nature which is also a positive aspect in the younger children may also persist into adult life where it can pose a problem socially, but this problem is not insurmountable.
Singapore
I have met about 10 AS children's parents. AS is very rare in Spore. When my girl was diagnosed at 11 months old, we were clueless and at that time, internet wasn't such a powerful tool to me. Managed to find information about AS from internet but didn't get to meet many AS. KK Hospital introduced a AS family to me, that was the first AS girl that I knew. After that, when my girl attended Rainbow Centre at 19 months old, I started to know a few others after she hit 5 years old.
There's no support group for AS but you can join Rare Genetic in Club Rainbow or Rare Disease (RDSS) to know other special needs parents.
Early intervention is important to ensure that children with Angelman reach their potential. Most children with AS benefit from physical, speech and occupational therapy. Behavioral modification therapy may be used to discourage unwanted behaviors. Genetic counseling may be of benefit to the families of those with AS.
Why set up this blog?
As a parent of a AS girl, I realised there are many things I would like to find out eg puberty but it is quite impossible because nowadays I don't take my girl to school. Thus, I don't get to meet parents of older special needs girls. During Club Rainbow outings, I didn't get to chit-chat either because by chance, those that I met, although older than my girl but were 'blessed' with no menstruation .... not yet. I wish my girl has no menstruation forever, I am frighten of that big day. What if my house is stained with blood every month? What if my girl end up with severe pain like a 12 years old normal girl that I met in KK Hospital, year 2014 ....worries and fear.
KKH doesn't recommend that I remove my girl's ovary. They felt I am cruel. Gynae commonly prescribed pills (contraception pill).
Yesterday, my girl had her first menstruation. I decided that her milestones, our experience may benefit other Spore parents. Thus, this blog is created to share. Till date, I am still learning. Each special child is unique, they may not develop the same 'symptoms' or learning hurdles but parenting them is the same .... lonely and may not be fully understood, supported by other family members and friends.
AS website (was my A-Z survivor)
You can go on the Angelman Syndrome Website to learn more about this syndrome.
Contact me
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