Introduction
Rett syndrome is among the comparatively grave but rare brain disorders. It affects girls most often. By and large, infants having Rett syndromes come off as normal when they are developing. Even then, their normal growth stops when they are between six and 18 months of age. Mostly, the infants lose hand, as well as communication, skills. Subsequently, they develop odd hand movements. Over time, the majority of children with the disorder lose their ability to walk and talk (Hunter, 2007). The other clinical symptoms or features associated with the disorder include sleeping problems, gastrointestinal problems, odd breathing patterns, spinal curvature, poor head growth as well as epileptic fits. Accordingly, the disorder is commonly associated with serious physical, as well as intellectual, disability. Mostly, girls with the syndrome suffer from substantial health challenges. Even then, in many cases, such girls’ parents opine that they come off as improving in their communication competencies and social awareness over time (Cassidy & Allanson, 2010).
Rett syndrome, which stems from specific genetic disorders, is linked to the mutation of the MeCP2 (methyl-CpG-binding protein 2) gene, which is borne by X-chromosomes (De Felice, Della Ragione, Signorini et al., 2014). Notably, the available information regarding the disorder’s natural progression and history is limited. There is a continuing need for research to establish the factors in the affected girls, their environments or their families that are associated with the Rett syndrome prognosis (Lotan & Merrick, 2011). This paper explores the disorder in the light of the ICF model developed by the WHO. The model has various components: body structures along with functions, contextual factors, activities, and participation. The contextual factors are either environmental or personal in their nature. The model will avail theoretical, or conceptual, basis for examining the broadest facets of functioning, as well as disability, in the syndrome.
Body Functions plus Structures
Various body functions, as well as structures, that Rett syndrome studies focus on and that are pertinent to the ICF model include skin functions, movement-related and neuromusculoskeletal functions, and reproductive and genitourinary functions. Others are sensory functions, mental functions, speech and voice functions, endocrine functions, and metabolic functions. The structures related to these functions are also focused on by the studies and are pertinent to the model. The model enables the making of variations or changes in body structure as well as function.
For persons with Rett syndrome, it is difficult to evaluate intellectual function since communication challenges and apraxia are linked to the disorder. Usually, the function is determined using WeeFIM, which enables the estimation of a person’s cognitive functional capacity. Neurological functions are of special interest since over six tenths of all girls suffering from the syndrome have epilepsy as well. They suffer epileptic seizures. Normally, the girls have normal hearing and visual functions. Indeed, the two functions are taken as being normal in the syndrome (Cassidy & Allanson, 2010). Even then, autonomic functioning, especially involving cardiovascular, as well as respiratory, organs attracts significant interest since the functioning as there is a widespread thinking it is affected by disturbances that are neurologically-mediated.
Hyperventilating and other breathing disorders are common in girls having Rett syndrome. Such disorders affect the girls’ growth patterns as deep breathing has a high correlation with high energy expenditure levels. The breathing function is commonly tested using autonomic monitors. The girls commonly suffer constipation, growth problems, and esophageal reflux disease owing to failing digestive system functions (Lotan & Merrick, 2011).
The failing of the different functions and the corresponding structures can be overcome or addressed in different ways to optimize the wellbeing of the girls and lessen the associated burden on their caregivers and families. For instance, the insertion of PEGs (Percutaneous Endogastric Tubes) can help bolster the intake of calories, reduce feeding durations, and enhance overall health, including weight. Many girls with Rett syndrome develop scoliosis, which is cured through radiotherapy, surgery or bracing. Scoliosis is an odd body structure (Hunter, 2007).
The structural impairments that impacts on mobility are usually overcame using walking frames, wheelchairs, and related aids. Some families have financial difficulties that restrict their access to the aids. Clearly, the functional, as well as structural, deficiencies linked to the syndrome need hospitalizations, which help in the management of acute conditions and operative processes to correct them. Such hospitalizations burden healthcare systems, caregivers, and families.
Activities
There are number of activities that individuals having Rett syndrome engage in and that are in specific domains pertinent to the model. The activities include learning activities, application of knowledge, communication activities, performing tasks, principal life activities, and interpersonal activities (Hunter, 2007). Others include domestic activities, self-care activities, movement activities, and communication activities. There is a need to assess the ability of those with the syndrome to execute daily, practical activities and their functional autonomy, considering the assistance and help they require (Cassidy & Allanson, 2010).
The assessments of their ability to execute communication ability entail appraising their verbalization ability and degee of comprehension. The assessment of their mobility activity ability covers frequency of wheelchair and chair transfers, shower transfers, bath transfers, toilet transfers, and locomotion. Especially, it is important to gauge the ability of those with the disorder to execute activities that entail the manipulation of given objects or items using hands as one of the principal attributes of the syndrome is losing functional hand usage. Hand apraxia is employed in attributing values to the extent of the usage. Self-care activities are usually appraised based on WeeFIM. The activities include toileting, grooming, dressing, and bathing. When appraising a girl’s ability to execute such activities, menstruation and puberty are considered as they affect parental and self-care management in the long-term.
By and large, women, as well as girls, having Rett syndrome are clearly unable to actively execute typical domestic activities, including housework, preparation of meals, and shopping. Even then, their caregivers and families usually make efforts to ensure that they are included in such activities whenever possible. For instance, some families include their girls with the syndrome in family shopping trips. Others have such girls help out in the kitchen when meals are being prepared, making them feel involved in such activities. Involving those with the syndrome in the activities has possible therapeutic benefits to them.
Participation
Individuals having Rett syndrome engage in, or participate, in varied specific domains pertinent to the model. There is marked interest in their participation in varied domains such as self-care or personal maintenance, information exchange, mobility, social interactions and relations, assisting others, home life, civil life, social life, community life, and education. Owing to the syndrome, women, as well as girls, are commonly incapable of participating in economic life, employment, and work in their typical manner (Hunter, 2007). Their nutrition participation is commonly constrained since the disorder is severe.
Participation in varied therapy services, including hydrotherapy, music therapy, physiotherapy, and occupational therapy for those with Rett syndrome is deemed to be health participation usually. The degree to which persons with the syndrome participate in the therapies is dependent on the gravity of the disorder, maternal education, and age. Mobility is a critical functioning area in females with the syndrome as it is frequently compromised or depressed, giving rise to a depressed capability for community participation. Some of them can mobilize autonomously while others mobilize when supported or aided with particular equipment. Some parents help mobilize their girls with the syndrome by modifying their home environments and vehicles accordingly.
There are difficulties in assessing information exchange participation for people with Rett syndrome as they have limited capacity to express own feelings and needs. They participation can be enhanced through the use of particular communication devices. Notably, the information exchange participation for people with Rett syndrome is closely tied to social relationship development and participation in civil life, social life, and community life ultimately. When the exchange participation for people with Rett syndrome is optimized, their involvement and the involvement of own families are bolstered as well (Cassidy & Allanson, 2010).
Home life participation and offering help to others are clearly linked to the extent to which those with Rett syndrome are disabled. Young females with the disorder are increasingly accessing supported living, as well as group homes, owing to the help rendered to them by specific government agencies (Lotan & Merrick, 2011). The access allows the females to take particular roles in domestic environments with own peers who are like-minded. There has been substantial change in the education participation of females with the disorder in recent years owing to changes in the overall policy and philosophy of special education. The civil life, social life, and community life participation of those with the disorder is a critical element for their lives.
The facilitation of the participation of those having Rett syndrome is dependent on the degree to which education and therapy experts are made aware of the syndrome. The participation may be restricted by varied factors, including the immobility, as well as disability, linked to the disorder. The immobility, as well as disability, restricts access to particular activities and events. Besides, participation in particular life circumstances or situations may be somewhat restricted by the communicative disabilities typifying the syndrome and the paucity for the resources required in overcoming the disabilities, for example, the lack of funds to purchase suitable communication devices.
Personal Factors
Some girls having Rett syndrome fight boldly to overcome it and execute various personal, or self-care, activities. As alluded earlier, the personal activities and factors may relate to toileting, grooming, dressing, and bathing (Lotan & Merrick, 2011). As noted earlier, when appraising a girl’s ability to execute such activities, menstruation and puberty are considered as they affect parental and self-care management in the long-term (Hunter, 2007). The related communication difficulties are likely to take aware the excitement in the lives of the girls with the syndrome. Physicians can help bring back excitement by supporting the girls to roll own eyes when they hear silly comments, blink to affirm provided answers, and laugh.
The personal triumphs of those having Rett syndrome can confer joy to those around them and help others progress through raising awareness regarding the syndrome. Educating those with the syndrome in community settings helps enhance their ability to execute varied activities, including eating, and maintaining nutrition, and enhance their overall personal dispositions (Cassidy & Allanson, 2010). The personal factors that are problematic in the lives of girls with the disorder can be considerably addressed by relating to them as adults. They can be addressed by engaging in age-fitting personal conversations with them to improve their confidence levels and make them increasingly determined to overcome the deficiencies associated with the disease. The deficiencies include not being able to adhere or respond to given instructions dependably and requiring ongoing assistance and supervision (Lotan & Merrick, 2011).
Environmental Factors
The etiology of Rett syndrome is thought to be related to various environmental factors, including persistent psychological stress, inadequate maternal nutrition, viral infections, and smoking. The assessment of the specific environmental factors that are available to those with Rett syndrome and their families is important in appreciating its burden. The factors also include the extant support and equipment in their environment. Some of the factors are cost-effective and beneficial as regards the optimization of the individual’s quality of life, function, and health.
Notably, the assignment and quantification of the majority of the environmental vulnerability factors associated with the syndrome is difficult. The factors are difficult to characterize as they usually interact with specific structural factors, including genetic factors. Their interactions may be intricate and may act at different levels (Hunter, 2007). For instance, the two sets of factors may give rise to additive effects, especially with the environmental factors modulating the expression of structural variants (Lotan & Merrick, 2011).
The onset of the development of the disorder can be stalled by putting in place interventions to help mothers steer clear of psychological stress, inadequate maternal nutrition, viral infections, and smoking. As noted earlier, some individuals with the disorder can mobilize autonomously while others mobilize when supported or aided with particular equipment. Some parents help mobilize their girls with the syndrome by modifying their home environments and vehicles accordingly. As noted earlier as well, young females with the disorder are increasingly accessing supported living, as well as group homes, owing to the help rendered to them by specific government agencies. The access allows the females to take particular roles in friendly, welcoming domestic environments with own peers who are like-minded (Cassidy & Allanson, 2010).
Conclusion
Rett syndrome is among the comparatively serious but infrequent brain disorders. It affects girls most frequently. The etiology of Rett syndrome is thought to be related to a range of environmental factors, including continual psychological stress, inadequate maternal nutrition, viral infections, and smoking. The syndrome is linked to the mutation of the MeCP2 gene. Various body functions, as well as structures, that are affected by the syndrome include neuromusculoskeletal functions, and reproductive and genitourinary functions and the corresponding structures. The failing of the different functions and the corresponding structures can be overcome or addressed in different ways to optimize the wellbeing of the girls and lessen the associated burden on their caregivers and families. There are number of activities that individuals having the syndrome engage in and that are in specific domains pertinent to the model. Owing to the syndrome, women, as well as girls, are commonly incapable of participating in economic life, employment, and work in their typical manner. Some girls with the syndrome struggle to overcome it boldly and execute various traditionally personal activities, including toileting, grooming, dressing, and bathing.
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