Angelman syndrome and typical developers

Abstract

            The topic on Angelman syndrome has draw many researchers, scientists, doctors, psychologists and even genetic engineers to study it since its detention in 1965. The expression ‘happy puppet syndrome’ was as attention catching phrase and perhaps the root to such great interest among scientists and the like. Alternatively, the increased diagnosis of happy puppet syndrome since its detention to the present has also had a hand in eliciting vast interest among stakeholders. Today approximately over 1000 children have been diagnosed of Angelman disorder (Weeber, Levenson & Sweatt, 2002) Despite the great interest in this intriguing disorder, not much progress has been made into developing its treatment, however its diagnoses is relatively simple. By observing the hypo pigmentation, protruding chins, jovial temperaments, microcephaly among others one can tell that someone is suffering from Angelman syndrome. Nevertheless, on major difficulty or diagnosing early onset of Angelman syndrome is that the features or symptoms become visible after the age of two. This paper takes a look at Angelman disorder that is, its causes, symptoms and prevalence rates. More importantly, this paper will attempt to give a comprehensive comparison between Angelman syndrome and typical developers across individual’s lifespan that is, from conception and gestation, infancy and toddler hood, early childhood, middle and late childhood, adolescence and adulthood. (Andersen, Rasmussen & Stromme, 2001).

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Introduction.

            In order to clearly understand what Angelman syndrome is, it is worthwhile to first point out what it is not. Angelman syndrome is not a disease, and thus us has no cure. Angelman disorder is not a discriminate neurological disorder, it affects all races and genders equally. Angelman syndrome is a neuro-genetic disorder that was discovered by a British pediatrician called Harry Angelman back in 1965. He noticed that some children had combination of symptoms such as speech impairment, developmental delays, fits, disturbed sleep, learning difficulties among others. Thus, he termed the disorder a syndrome and after his name, Angelman. Another term that was used to describe this syndrome is the ‘happy puppet syndrome’ owing the traits of frequent laughing, ataxia gait, hand flapping and the generally happy manner that characterizes this disorder. However, the happy puppet syndrome term is no longer used because of the derogatory connotation that it carries (DeHart, Sroufe & Cooper, 2000).

            Angelman syndrome is a rare disorder and often it has been wrongly diagnosed for prader-willi syndrome. However, there lies a distinction between the two disorders in that Angelman syndrome is caused by defect or absence of some crucial genes from maternal chromosome 15. While Prader-willi syndrome is caused by defects from paternally inherited genes.

Stem cell research and Angelman syndrome

The NINDS and Angelman syndrome foundation has been on the fore front of conducting research on angelman syndrome particularly, genetic analysis of the people with angelman syndrome, in an attempt to isolate the angelman syndrome gene. Chief in their priorities is the stem cell applicability in the happy puppet syndrome. Stem cells have the capacity to divide into other cells. Stem cells are responsible for developing into new tissues in the embryo and also replacement of worn out tissues. (organ tissues, red blood cells, white blood cells) stem cells are found present in the bone marrow kidney liver and other vital human organs. The stem cell research and development has elicited mixed reactions among scientist geneticist and human rights activists. Scientists believe that the defects of genetic make up among people with happy puppet syndrome could be corrected using stem cell engineering. (Ho, Hoffman, & Zanjani, 2006).  The gene mutations could also be inhibited using stem cells that compliment mutated chromosomes. These ideology builds from the fact that stem cell are used to correct the negative side effects of the treatments used for cancer (chemotherapy and radiation). Genetic engineers are foreseeing a situation where breakthrough of stem cell use in treating cancer will also be used to cure other neuro-genetic disorders such as autism angel man syndrome, prader-willi among others. (Murray, 2007).  On the other hand human right activists are skeptical about the new developments since there are no policies to regulate this research. In addition, there are some similarities with stem cell transfers with cloning and as well known, the issue of cloning, test tube babies have moral questions that they raise. Further research into the study of genetic related disorders reveal that angelman syndrome, prader-willi, beckwith-weidmann syndromes among others are cause by poor formation of patterns during the DNA methylation process which in turn trigger the immune deficiencies and mental retardation and developmental milestones associated with  the neuro-genetic disorders. Scientists believe that they can intervene in this process of methylation and demethylation process to hamper the epigenetic activities that cause the chromosome 15 in the female cells to be inactive. By so doing the number of children born with the disorder will reduce by a significant number. (Murray, 2007, Ho, Hoffman, & Zanjani, 2006).

Commonality of Angelman syndrome

            As pointed out, Angelman syndrome is a rare disorder hence due to the small population of Angelman syndrome than the term prevalence will be used to show its commonality. Deriving an exact approximation on its commonality is not as straight forward. However, it is safe to say that one out of every 10,000 children suffer from Angelman syndrome According to research studies conducted in Sweden and Denmark out of 12000 children of the 45,000 births per year have Angelman syndrome. In the US, he prevalence of Angelman syndrome is approximately 1000-5000 that is about 1 in of 12000 individuals (22,600) have Angelman syndrome. The prevalence of Angelman syndrome in middle aged children and young adults  stands at 1/10000 and 1/20000 respectively, which basically implies that 1/15000 of these cohorts combined suffer Angelman syndrome. The prevalence rate of angelman syndrome is perhaps low because it goes undiagnosed among population. Most caregivers or parents with children with angelman syndrome prefer to ignore the disorder believing that it will pass. The disorder is often associated with shame and therefore few take their children for counseling or treatment. Never the less, the population with undiagnosed Angelman syndrome is significant. (Gimelli, 2001)

Causes of Angelman disorder

            As is caused by genetic factors such as UPD (Uniparental Disomy) gene mutation, translocation, inactive of maternally inherited chromosome among other UPD contributes to Angelman syndrome in the sense that a person receives a copy of a chromosome from one parent but lacks a set of chromosome from the other parent. Perhaps this happens during the processes of sex cell formation that is, the egg and the sperm.  (Cox, Burger, Lip, Mau, Sperling, Horsthemke, 2002) This nature of UP inherited imprinted genes means that a person has an excess of identical chromosomes from one parent and a deficit in chromosome from the other parent. (DeHart, Sroufe & Cooper, 2000) This leads to manifestation of delayed growth, mental retardation and other conditions related to Angelman syndrome. Translocation a genetically imprint chromosome abnormality that occurs when component parts of chromosomes rearrange themselves among chromosomes with same structures but are used for different functions. In this case critical genes become absent or in excess hence causing Angelman syndrome. Gene mutation, which occurs when genes evolve on their own to form cells that are either malfunctioning hence causing Angleman syndrome. (Fridman, Varela, Kok, Diament, Koiffmann, 2000).

 Generally, healthy persons have a set of chromosome 15, which they get from both parents. Nevertheless, the process of transferring these genes or epigenetic imprinting may hinder these crucial chromosomes from successfully combining in the embryo hence cause Angelman syndrome. Angelman syndrome is a disorder and has no profound correlation to life threatening symptoms. However, severe cases of seizures and mental retardation contribute to risk factors that influence longevity of children or people with Angelman syndrome. Research also confirms that Angelman syndrome is not caused by environmental factors, family background, and trauma during period of pregnancy or other extrinsic factors. This means it is possible to find that a child diagnosed of Angelman syndrome comes from a perfect family tree where the trait is absent (Hall & Cadle, 2002).

Other causes of the angelman syndrome disorder include abnormal methylation of chromosome 15 mutation of the UBE3A gene within the 15q11-q13 region, chromosome rearrangements of the 15q11-q13 region and other causes which are still unknown. Despite the fact that angelman syndrome is not out rightly a hereditary disorder, some cases have been attributed to inherit trait as the UBE3A gene is an inherited one. (Burger, Horn, Tonnies, Neitzel, Reis, 2002)  Often a parent who suffers angelman syndrome disorder will have a 50% chance of transferring the trait to the offspring. However this kind of transmission is a rare occurrence say 0.01% chance out of 15,000 to 200,000 births. A story is told of an woman who suffered Angelman syndrome and gave birth to a child who also had angelman syndrome. Doctors pinned this to the UBE3A gene but were left wondering how the woman got pregnant in the first place? Are angelman syndrome patients sexually active? This remains a grey area to many curious minds. (Kokkonen & Leisti, 2000).

Symptom statistics for Angelman syndrome

            According to Dr Harry Angelman of the Angelman syndrome foundation 100% of people with Angelman syndrome in US have severe developmental delays speech impairment, lack of muscle control that causes involuntary muscle movement and inability to coordinate movement to limbs, spasms of laughter, hand flapping, low attention spans as well as unique jovial; personalities. 80% of Angelman patients also have microcephaly (disproportionate head circumference) abnormal brain structure and experience seizures at the age of 2 to 3 years of age. 20-80% of Angelman patients depict an array of symptoms ranging from wide mouth and big teeth, drooling and tongue thrusting sticking out chins, squinted eyes or crossed eyes, hypersensitivity to heat, disturbed sleep cycles wide jaws and thin upper lips, hypo pigmentation. They are equally fascinated with water a trait that scientists and researchers have failed to connect. Perhaps the most disturbing symptoms of the Angelman disorder is the subnormal intellectual functioning abilities that it causes (www.angelman.org ). The victims of Angelman syndrome tend to be on the lower sides of intelligence quotient with scores below 67 which essentially depict mental retardation. The angelman syndrome is known to cause other related medical conditions and difficulties for example macrostomia and prognathis (Disease Database p.28). More importantly, Angelman syndrome causes severe learning disabilities which may be a combination of Dyslexia, stuttering, phonological disorders, ADHD, receptive language disorders among others (Cox, G. F.; Burger, J.; Lip, V.; Mau, U. A.; Sperling, K., Horsthemke, B. (2002). This is the reason why children with Angelman syndrome never learn much and are unable to communicate in writing or in speech. Most of these symptoms become evident at 2-3 years of age. In isolated cases the patient may develop fixation on food and become obese. Some speculation surrounding this fixation offer that it is due to frustration and helplessness. (DeHart, Sroufe & Cooper, 2000). Unusual facial features  jerking, happy demeanor, mental retardation present at birth, slow or delayed physical growth, learning disability, microcephaly that is, a small head unproportional to the body, seizures an fits, hand flapping, disturbed sleeping pattern, squinted eyes disfigured spine (10%) and general body weakness and health being. 80% of he individuals with Angelman syndrome are also epileptic. The unusual facial features are seen in their big mouths and prominent chins. On the brighter side, people with Angelman syndrome are nurturing and laugh a lot. Their fascination with simple things like water and bright colors makes them unique. In most cases, people with Angelman syndrome also have ADHD which further compounds their learning difficulties.

Diagnosis

The effects of angelman syndrome vary depending on the cause on one hand. Mutation of the UBE3A gene is known to cause mild angelman syndrome disorder while on the other hand inactive or complete deletion of chromosome 15 is known to cause profound angelman syndrome disorder. Cases of wrong diagnosis are commonplace as the symptoms or features of angelman syndrome are similar to cerebral palsy, those of down syndrome, epilepsy, Prader-willi and autism (Hall, 2004) Often times, they are also regarded as psychiatric cases or mental retards. However, the relationship between Angelman syndrome and Prader-willi is close as both are caused by genetic mutation and absence of chromosome 15.

Treatment of ANGELMAN SYNDROME

            Patients of angelman syndrome have to live with the condition as even now there is no cure for the disorder. Nonetheless, symptoms like seizures are treated using anticonvulsants in order control seizures. Other symptoms like inconsistent patterns of sleep are treated by giving the child sleeping pills for example Melatonin to promote sleep. This is because they only sleep for about 4 hours at any one time. Physiotherapy also helps the patients to have muscle control and coordination and reduces the stiffness tremulous movement. They are also able to walk better with some psychotherapy. Some pediatricians prescribe mild laxatives to patients who have irregular bowel movements to boost. New developments used to treat or improve the condition include occupational; therapy, music and art therapy, speech therapy among others (Orstavik, Eiklid, Hagen, Spetalen, Kierulf, Skjeldal, Buiting, 2003). Music therapy is especially helpful in helping the child to gain motor skills, become self aware, and develop interpersonal relationships and professionals highly recommended if for these patients. This therapy has also worked wonders in treating individuals with mental illnesses such as Melancholia. Basically, it helps them to be more expressive and in touch with their environment.

Implication of wrong diagnosis of Angelman syndrome

            The apparent misdiagnosis of the angelman syndrome has led to the begging question of what happens to the individuals who live with this undiagnosed condition. One notable implication is that they fail to get early intervention such as physical exercises to control the jerking gait, language intervention techniques to assist with their talking difficulty. Without proper angelman syndrome diagnosis, or any diagnosis for that matter, care givers fail to understand the children and place unrealistic demands on them, which often leads to low self-esteem and frustration, which progresses into adulthood. The situations at social places say the school is usually severe for these undiagnosed children. As noted, these individuals have unusual facial features and laugh aimlessly. These characteristics if not understood by peers are used to make fun of them, something that triggers further seizures in the child.

Conception and gestation

            Angelman victims’ develop the disorder right from the conception period a breaking away from chance of experiencing normal development. During the stage of meiosis(the stage of cell reduction which cells undergo in preparation to become sex gametes(sperm and Egg) genetic mutation may occur (Buiting, Barnicoat, Lich, Pembrey, Malcolm & Horsthemke, 2001) Likewise, as the chromosomes undergo meiosis exchange of genetic material between the homologous may go wrong in which case, one crucial gene becomes inactive or is deleted. In either case, Angelman syndrome sets on. One thing to note is that, human genetic makeups is not built with a complimentary gene and if any gene is left out either during cross over period (meiosis) or in earlier stages, then it means that the child will have to go without the gene. In Angelman syndrome, it is the chromosome 15.

            At the gestation period, diagnosis of Angelman disorder is extremely difficult. This is because as pointed out earlier the cause is in the genes and tests such as urine test blood test, cerebral spinal fluid test and such like, fail to capture this information. (Ludwig, Katalinic, Gross, Sutcliffe, Varon, Horsthemke, 2005) Seemingly, everything appears normal for the fetus at these stages. More to that, history of the family is unreliable to determining the risk factor that a child would be born with Angelman syndrome, hence the development goes unnoticed by doctors and parents. Oddly, there has been found no linkage between teratogen infection or other infections and complications during pregnancy and Angelman syndrome. (Hall, 2001)

Infancy and toddler hood

            The development of Angelman syndrome children is usually normal. On a 1-10 scale they rank 5 and above which is desirable. The apgar scale which measures external hue, birth weight, muscle tone, heartbeat rate, breathing among other bodily functions indicate normal development and health of the child. (Davis & paladino, 2000). In addition, unusual facial features at birth are absent as well as other sell off traits associated with Angelman syndrome. Due to the lack of the cues, infants with Angelman disorder are sent home without any suspicion. However, keen doctors may be able to detect Angelman syndrome from strabismus, that is, (crossed eyes) but the suspicion may be unfounded as it is common for infants to have strabismus and besides, the condition is correctable(Dehart et al, 2000) Therefore at infancy the disorder may go unnoticed. Nonetheless, at toddler hood, the symptoms begin to depict abnormal behavior, such as hand flapping and jerking movements. In addition, developmental problems such as hypo pigmentation, poor breastfeeding, increased sensitivity to heat especially sunshine and sensory problems distinguish the child from other ‘normal’ children. At toddler hood (4-6 months old) most children are able to sit, crawl around the house, and utter nonsensical words and vowels in readiness to talk. However, toddlers with Angelman syndrome depict delayed capabilities such as sitting on their on, crawling walking babbling vowels and have poor response to verbal skills. These toddlers are more receptive to non-verbal cues. Hypersensitivity is also characteristic of these toddlers something that stands out from other normal toddlers. A normal toddler at 2 months is capable of cooing and reciting vowel like sounds. At 6 months a toddler is able to babble sounds of two to three letters for example ma, pa, and such as it approaches speech stage.  At 10 months, the normal toddler attempts to make conversation although in non understandable manner. At 1 year and beyond the child uses small words to express her or himself and with practice he/she learns to use actual words that make sense to communicate (Davis & Palladino, 2000). On the other hand, Angelman toddlers are limited to slower growth and development pattern. These children, babble alright but nothing of sense. Even where they manage to utter some words, the words lack telegraphic syntax. The characteristic trait of happy puppet syndrome comes out clearly at toddler hood. The child lets out frequent outbursts of laughter and the parents may in return give a reflexive laughter to the child thinking that probably the child has seen something exciting.

Early childhood

            Normal children learn to crawl at around 8 to 7 months of development, conversely, Angelman children learn to crawl much later, approximately at 26 months and learn to walk at the age of 3.6 years that is, one year later that a typical developer. These profound delays in functions such as sitting, walking, crawling and speech instigate curious worry from parents and caregivers. Most parents take their children to pediatrician following these realizations and it is then that most diagnosis of Angelman syndrome is made. Time and again the child with Angelman syndrome is confused to have Autism due to similar conditions of hyperactivity, absence of verbal communication skills, poor sleeping patterns, self preoccupied nature, interest in undemanding tasks like playing with water or spinning a wheel (Nazlican, Zeschnigk, Claussen, & Michel, 2004) Typical developers at early childhood show normal facial features say proper eyes proportional head, and well placed chin. In contrast Angelman syndrome children tend to show distinctive changes in the facial structure. For one, the head begins to shrink as the rest of the body develops (microcephaly), and the chin starts to protrude outwardly although in salient manner. Furthermore the happy demeanors increase and the seizure and fits commence as they progress in childhood. At this point, the blend of spasms of laughter, hyperactivity, facial metamorphosis, microcephaly, seizure and delayed growth and development spurs doctors to test the mutation or absence of chromosome 15, the culprit of Angelman syndrome.

Middle and late childhood.

            A typical developer at middle childhood has developed both physically, cognitively and socially. She/he can be able to sustain a conversation, build social networks and friendships, and engage in physical play, capability of reading and writing among others normal activities. In contrast, children with angelman syndrome disorder at this stage are sill learning to talk and use the potty.  They are unable to make sense of parental example unlike normal kids who pick up cues from their parents and act them out as they try to understand the environment around them. Due to lack of communication skills the frustrations in the Angelman child soar and physical protests and tantrums are common for these children. Their irritable nature also is due to the lack of proper sleeping patterns and the frequent epileptic-like seizures. However, some children with Angelman syndrome are able to learn sign language and other gestures that help them communicate with others.

            Normal children at middle school tend to be very active in physical games like jumping around, running, skipping and swinging. As such, they get very hungry and thus feeding them becomes easy. The Angelman child however, experiences difficulty in feeding due to the characteristic big teeth, wide mouth and this upper lip. More to that, Angelman syndrome children drool a lot and have a tenancy to thrust their tongues. This makes feeding a problematic ordeal and hence with time they have poor weight gain and low immunity.

            A typical developer at late childhood is a socially developed child capable of memorizing and using over 40 000 words. (Dehart et al, 2000). Quite the opposite, Angelman children can barely learn seven words. Although they may be able to understand a bit of what others say, their productive speech is still inhibited. Many researchers agree that Angelman syndrome children are not completely daft and they are able to comprehend their short falls. This often times leads to frustration and poor self-esteem.

            Children with Angelman disorder tend to prefer staying alone. Even when at school, they separate themselves from the crowd and generally hate being at school. Wherever they realize that their surrounding is different from that at home, they become frustrated perhaps due to their limited communication skills. Furthermore, these children get teased for their frequent drooling, unusual features poor motor skills and stiff-legged gait. (Williams, Beaudet, Clayton-Smith et al 2006).

Adolescence and Adulthood

An aspect of hope appears present for adolescents with angelman syndrome and their parents and care giver. Notable, the disorder is not an easy one to live with. This is because the       syndrome inhibits normal functioning of the individual especially the social aspect. It is not easy to be 12 years old and have capabilities of a 2 year old it is also not easy living with conditions like seizure and tremulousness. However, in the onset of adolescent, the seizures reduce fewer incidents. Additionally, they are able to engage in other social activities such as riding a bike, skiing, and athletics among others. Their IQ levels also improve and although skeptics still hold that Angelman patients retain profound mental retardation throughout. Remarkably, IQ tests tend to be biased to measuring academic intelligence while sidelining practical intelligence. Thus, IQ test in weighting Angelman patients intelligence is utterly subjective hence not reliable in gauging improvements among them. (Lossie, Whitney, Amidon, Dong, Chen, Theriaque, Hutson, Nicholls, Zori, Williams & Driscoll, 2001). The normal developers on the other hand have developed in all aspects of life. Adolescent stage for them is a stage characterized by identity crisis and need for independence. The adolescents feel that they should experiment more on other issues other than academic fields. Social skills are equally put to the test as seen in the numerous dating activities and social gatherings convened by the adolescents. A typical developer at this stage is capable of engaging at least 3 domains of cognitive skills that is, knowledge recall, analysis, sequencing and evaluation. This is not so for the Angelman adolescent although his social skills also improve considerably.

            By the time an Angelman patient becomes an adult, he is able to builds friendship with colleagues and his overall health also improves. His memory of basic things like how to use a napkin improves too.  However, he/she may still not be able to speak and his life remains dependant considerable on other. Angelman patients are capable of gaining some level o independence in term of securing a job that does not require mental efforts and that is repetitive in nature. Their happy demeanor persists through to adulthood although their hyperactivity nature shows down with time.

            A typical adult on the other hand depicts prime developments in all areas of life. He/she gains independence and takes pride in doing challenging and non-repeatedive jobs that offer variety and are engaging. The typical adult seeks close associations with friends and spouses and get into marriages and clubs, which cater for this need. A typical adult is capable of taking care of himself unlike the Angelman patient whose life remains predominantly at nursing level.  Angelman adults rarely get married, as they cannot comprehend such union in the first place.

Coping with Angelman syndrome

            Angelman syndrome affects the patients’ lives as well as the caregivers or parents lives. This is because their whole lives remains dependant and nursing level unlike the typical developers. As such the parents and care givers need to devise some strategies of handling them will need to be devised to suit these unique needs. This is because taking care of an angelman sick patient is an enormous challenge. One crucial thing that caregivers should know is that irrespective of the life changing demands of the disorder, both parties can live a fulfilling life and the condition need not destroy their structure of happiness. The second thing that the parents should know is that they need to enroll to a support group because going it alone can be too overwhelming for the parents and could cause stain to other relationships at the workplace, marriage and in the neighborhood that one resides. It is important too that the support groups are attended the whole family so that the sibling understand that the child’s condition is special and as a family support the affected child to live the happiest life he can possibly live.

Angelman Syndrome patients have jovial personalities and enjoy human contact and interaction. This desire comes out at an early age and with time; they develop means of making themselves understood. Parents need to encourage this development and smile back even though it may be unauthentic. Their happy demeanor provides good foundation for wonderful parent child relationship. (Hall, 2002)

            Different patients suffer different degrees of severity in terms of symptoms. For the population least affected by the syndrome, learning some basic sign language is possible on the other hand; greater effects of the syndrome render such knowledge unattainable to the severely affected. In this case the parents are supposed to tune in to their children’s needs and capabilities by not expecting so much from them. Simple accomplishment like a word utterance or toilet training should be appreciated. It is recommended that parents/guardians enroll their Angelman syndrome children to occupational and physical therapy classes as soon as they are diagnosed as this early intervention improves their muscle control and self care skills.

Parent and guardians should never overlook the importance of sleep in coping with these individual’s symptoms. It is documented that high frequency of seizures correlates greatly to poor patterns of sleep. Thus, caregivers should offer sleeping pills or even lulling music to encourage better sleeping hence reducing frequency of epileptic seizures.

Girls with angelman syndrome suffer considerably especially in the onset of puberty and menstruation. Caregivers should ensure that cleanliness at such periods is upheld and that the child understands what is going on in their body. This may prove difficult, as the child’s intelligence is very low. Perhaps, professional opinions and advice needs to be sought during such dilemmas.

Patients with angelman syndrome develop greater control of excretory functions naturally as they grow older. Parents may teach their children grooming skills and table manners their clothes should be simple without, difficult functions buttoning and zipping. Accordingly due to their difficulty in eating, parents should ensure that they serve small helpings to their children but more frequently. Also attractive and tasty food encourages the child to eat more.

Parents should not feel that their children are totally helpless. Teaching them a few house chores helps them to exercise their muscles, be more self aware and builds the relationship between parent and child.

Parents need to cope with the tendency of angelman syndrome children to be fixated with food and obesity. This is why physical therapy becomes important to reduce excessive weigh gain. Perhaps also serving well balanced foods and healthy snacks goes a long way to alleviating the obesity risk. Caregivers need to keep a close eye on their children because their friendly and affectionate nature, though desirable, can land them into the hands of pedophiles or socially misguided elements.

Conclusion

The Angelman syndrome is still an unknown disorder for many, due to its rare prevalence. Taken as a whole, progress on the treatment and diagnosis of the disorder has been frustrated by various factors including but not limited to clinical inefficiencies and lack of keenness on the physician’s part on early signs of the disorder, its nature in terms of the cause. As seen, it is a genetically caused disorder, which cannot be captured by any cytogenesis tests (blood, urine, spinal fluid tests) hence insufficient research has been done on it. What’s more, other factors such as the masked correlation of Angelman disorder with other disorders such as Prader-willi, Autism, epilepsy, cerebral palsy among others have also reduced the intervention strategies for Angelman syndrome. Moreover, parents are unable to get real time information about their child’s condition, as the family history is not linked to probability of a child suffering Angelman syndrome. In addition, the tell-tale symptoms of Angelman syndrome manifest much later in the child’s lifespan that is at early childhood hence hampering diagnosis of the condition. Therefore, more research into the condition needs to be effected and probably the government can play a facilitative role by providing financial as well as other resources to help researcher and scientist to this end. Accordingly more articles and publication need to be put at the disposal of the public to create awareness of this rare condition. This is because it will help to erase the stigma associated with the disorder and ensure that parents who have children diagnosed of happy puppet syndrome get support groups via internet. Also the information provided will assist parent to utilize measures that could alleviate the severity of the symptoms of the disorder. Many parents out there are frustrated about the conditions facing their children. Centers where they can access help and supports are few and sparsely located. Their child’s departure from normative development elicits desperation and anxiety on their children’s behalf. Thus, geneticists need to be egged on to shed more light into the Angelman syndrome disorder. Only then can the Angelman syndrome gain positive meaning to the Angelman patients and care givers that indeed angels do exist among Angelman syndrome patients.

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