The Social Security Administration (SSA) launched the Compassionate Allowances List (CAL) in 2008. This created a mechanism for expediting review and delivery of disability benefits, while decreasing application backlog. This study hypothesized that developmental disorders, such as Smith-Magenis syndrome, may meet criterion for inclusion. An evaluative review of the literature was undertaken to determine if the expedited review criterion was met. Ten databases were searched and articles meeting pre-defined criteria were coded according to the SSA definition of disability to determine if severity indices screen in or screen out certain severity levels or exclude Smith-Magenis syndrome entirely in relation to the CAL program. It was strongly recommended that Smith-Magenis syndrome receive consideration for inclusion in the CAL.
The Social Security Administration (SSA) Compassionate Allowances List (CAL) began in 2008. The CAL is defined as a way to “quickly identify diseases and other medical conditions that invariably qualify under the Listing of Impairments based on minimal objective medical information” (FR Doc. E9–26194). The program initially identified fifty neurological, mental, and immune disorder conditions that qualified as a disability (under statutory definition provided by SSA) necessitating expedited delivery of benefits; reducing waiting time and more immediate eligibility. Neurodevelopmental conditions result in an impairment in the growth and development of the brain and/or the central nervous systems (Patel & Merrick, 2011). There are many such conditions which are not included in the list of conditions set forth by the CAL criterion, which may affect one's ability to maintain gainful employment, and are variable depending on the level of severity. Depending on the syndrome, the needs of the individuals diagnosed may vary greatly, as would their capacity to maintain employment and their need for expedited benefits. As a result, it was hypothesized that Compassionate Allowances may be necessary for individuals diagnosed with Smith-Magenis syndrome (SMS) if the experiences resulting from the condition meet the three-pronged disability definition set forth by SSA.
Disability in adults is defined as “the inability to do any substantial gainful activity by reason of any medically determinable physical or mental impairment which can be expected to result in death or which has lasted or can be expected to last for a continuous period of not less than 12 months. (Social Security Administration; 2012; § 404.1505). Severe impairment must occur to the extent that past work is inhibited (§ 416.960(b)), or the performance of any other substantial gainful work (§416.905(a)). Disability in children (under the age of 18) is defined as possessing a “medically determinable physical or mental impairment or combination of impairments that causes marked and severe functional limitations, and that can be expected to cause death or that has lasted or can be expected to last for a continuous period of not less than 12 months.” §416.906. Substantial Gainful Activity is defined as work activity that involves doing significant physical or mental activities. § 416.972. (Social Security Administration, 2016). For individuals who are not blind, the earnings guidelines are $1,130 a month, or if the individual is blind the earnings cap is $1,820 for the year 2016 (Social Security Administration, 2016).
SMS is a neurodevelopmental disorder which results in moderate to severe intellectual disability, extreme sleep difficulties, ongoing and unique behavioral challenges, and effects on multiple body systems (Smith, Magenis, & Elsea, 2005; Edelman et al., 2007). SMS was the focus of the study after reviewing recommended conditions for study put forth by the SSA. This study sought to methodically examine whether individuals with SMS invariably meet the definition of disability set forth by SSA, including diagnosis for at least 12 months with an incurable condition, and the inability to maintain gainful employment. This study also examined how SMS may impact an individuals' quality of life and/or threaten their life.
The CAL currently includes over 200 accepted conditions, though there are many candidate conditions which meet the criterion, including those that are developmental in etiology. Fifty disorders were originally added to the CAL and were constrained to cancers, brain injuries and conditions considered “rare.” In December of 2011, 13 new conditions were included, 52 new conditions were announced on April 11, 2012, and 32 new conditions were added in December 2012 (Social Security Administration, 2012). Angelman syndrome, Cri du Chat syndrome, Cornelia de Lange and Rett Syndrome are four developmental conditions included in the CAL. Some conditions, neurodevelopmental in nature, are not included in the list of currently acknowledged conditions. Presently, there is not a process for examining additional conditions for inclusion. Though some individuals are afflicted with conditions which have been diagnosed, well-established, and verified by objective medical evidence, unless the condition is included on the CAL, they must navigate the standard benefits procedure. The benefits process is described by some as long-winded and difficult to navigate for parents, guardians, and the individuals receiving services (Kennedy & King, 2014). In 2009, advocacy groups argued younger-onset dementias should be added to the list due to the fact that those afflicted can no longer maintain employment, which opened the possibility of dialogue and research concerning adding conditions (Fried, 2009). This study is a demonstration of one such method of identifying new conditions for inclusion and providing empirical evidence to support such claims.
Review of the Literature
Smith-Magenis syndrome (Online Mendelian Inheritance in Man (OMIM) #182290, *607642) is a rare genetic disorder, which occurs both in males and females, as well as people of all ethnic origins. Prevalence is estimated at one in 25,000, though as diagnostic techniques improve researchers believe prevalence may be as high as one in 16,000. As of 2001, there were 100 cases described in the literature (Udin, Webber, & Horn, 2001), though at least 500 cases have been diagnosed across the world since 1982 (Smith, Magenis, & Elsea, 2005). Since the early part of the 21st century, genetic testing has become more commonplace and accessible, and as a result prevalence is now estimated as 1 in 15,000 to 25,000 live births (Elsea & Giriajan, 2008). In 90% of cases a deletion in chromosome 17p11.2 is responsible (Udin, Webber, & Horn, 2001), and is detectable through in situ hybridization (FISH). In 10% of cases, a mutation in RAI1 is detectable (Edelman et al., 2007).
Distinctive facial features are found in this syndrome, as well as fingers bending inward and small toes (Colley, Leversha, Voullaire, & Rogers, 1990). Dental irregularities occur in more than 90% of those diagnosed, and in under 40% of cases scoliosis, cardiac deficiencies, and renal and thyroid issues may be present. In almost 75% of cases, peripheral neuropathy or decreased sensitivity to pain may be an issue and may coincide with the severity of behavioral issues. Evidence of peripheral neuropathy early in life may include hypotonia (in 100% of cases), with corresponding hyporeflexia (in 84% of cases) and a high pain threshold (Gropman, Duncan, & Smith., 2006).
Genetic confirmation of the 17p11.2 mutation is one path to diagnosis, though clinical diagnosis is generally initiated by physical and behavioral symptoms. Gropman and colleagues (2006) have suggested that a unique infant phenotype might exist given that these infants typically demonstrate age appropriate disposition and displays of social skills. Some indicative facial features may be present as well as developmental displays, but typical temperament and socialability may lead to a delayed diagnosis. SMS infants also have normal growth in terms of head circumference, height, and weight. At approximately one year of age, a decline in height and weight is noted in infants with SMS. This decline is typically observed as failure to thrive (Gropman, Wolters, Solomon, & Smith, 1999). A broad and square face is evident, leading to a misdiagnosis of Down syndrome in some cases, both in infancy but also as these features become more accentuated with growth and age. At approximately 18 months, self-injurious behaviors become evident as well as stereotypic behaviors (Gropman, Duncan, & Smith, 2006). The prevalence of self-injurious behaviors is as high as 97% and well-documented in the literature (Sloneem, Oliver, Udwin, & Woodcock, 2011).
Intellectual disability is present in all cases, though individuals may experience a range of moderate to severe manifestations (Dykens, Finucane, & Gayley, 1997). While individuals with SMS demonstrate many cognitive strengths, including attention to detail, computer skills and long-term memory capacity, these strengths may be misleading as adults with SMS require more assistance than might be readily apparent. Some have found that adult daily living skills actually decreased as chronological age increased, which may be in part due to behavioral difficulties such as severe sleep disturbance, impulsivity, physical aggression, and stereotypy (Sloneem & Udwin, 2011). Self-injurious behavior is particularly problematic, as described previously. Unique self-injurious behaviors (SIBs) occurring in SMS patients include onychotillomania (pulling out fingernails and toenails) as well as polyembolokoilamania (inserting foreign objects into bodily cavities) (Girirajan et al., 2006). These behaviors have been so severe in some cases that abuse has been suspected and children have been referred to social services (Laje et al., 2010).
Some authors have attributed SIBs to an inability to communicate (Gropman, Duncan, & Smith, 2006; Sloneem, Oliver, Udwin, & Woodcock, 2011), especially due to the frustration experienced by those with communication difficulties (Poisson et al., 2015). Other authors have argued that these behaviors are maintained by attention, as children and adults with SMS consistently seek out adult contact and attention (Taylor & Oliver, 2008). In addition to self-injurious behavior, other maladaptive behaviors occur at a high frequency, such as: physical aggression (87.5%), destructive behavior (81.3%), impulsivity (80%), and verbal aggression (43.8%). In fact, individuals with SMS were more than 35 times more likely to engage in self-injury as compared to those with intellectual disability and far more likely than those with Angelman, Cri du Chat, Cornelia de Lange, Fragile X, and Prader-Willi syndromes. SMS individuals were also more than three times more likely to engage in physical aggression than those with intellectual disability and more likely than the previously noted conditions. This group was also disproportionately more inclined to hit themselves with their own body or against or with an object, bite themselves or pull on oneself (Arron, Oliver, Moss, Berg, & Burbidge, 2011). These behaviors are noted to occur on an almost daily basis (Sloneem, Oliver, Udwin, & Woodcock, 2011). Gropman and colleagues (2006) note ten behavioral features that distinguish SMS from other syndromes such as Prader-Willi or those arising from mixed etiologies. These ten were determined with 100% accuracy and include: “temper tantrums (94%), disobedience (97%), attention-seeking (100%), property destruction (86%), impulsivity (86%), aggression (57%), hyperactivity (94%), distractibility (89%), toileting difficulties (80%), sleep disturbance (94%), and nail-biting behaviors (72%)” (Gropman, Duncan, & Smith, 2006, p. 343). In addition to the behaviors noted above, stereotypical behavior is often present and may include “self-hugging” or squeezing the upper body. These behaviors are known to escalate with age, and are correlated with level of intellectual disability and severity of the sleep disturbance (Giriajan et al., 2006).
In addition to the difficulties noted previously, sleep disturbance is a hallmark characteristic of SMS and occurs to some extent in all SMS cases. In these cases, a reversed circadian rhythm is responsible, which is thought to be caused by abnormal melatonin production and integration. Excessive lethargy in the daytime and reduced sleep in the 24 hour cycle are oft-reported symptoms, in addition to early-morning and nocturnal waking. Difficulties with management of sleep have been difficult to overcome, and one uncontrolled study showed promising results with acebutolol, but did not restore nighttime melatonin plasma concentrations (De Leersnyder et al., 2001).
Utilizing the criteria for the CAL program, SMS was compared to the CAL criteria to determine if this condition invariably meets the criteria. Literature regarding the measurement of severity thresholds was reviewed to understand how severity and intensity determinations are made currently. Using guidance from the Cochrane Methodology Register (Higgins & Green, 2011), this was accomplished through a methodical review of the literature in bibliographic databases, including The Cochrane Library, The Health InterNetwork Access to Research Initiative (HINARI), as well as MEDLINE and EMBASE. Regional electronic databases were searched in order to gather regional or international literature that may not be indexed on MEDLINE and EMBASE. Subject-specific databases were utilized including: Applied Social Services Index and Abstracts (ASSIA), Education Resources Information Center (ERIC), and PsycInfo, and the Science Citation Index Expanded. “Smith-Magenis syndrome” was the primary search term.
Each article meeting the inclusion criteria was rated with a code of 1, 2, or 3. The inclusion criteria consisted of a peer-reviewed manuscript's ability to address the three-pronged disability definition provided by SSA. This includes: a diagnosis of at least 12 months with an incurable condition, the inability to maintain gainful employment, and an impact on quality of life and/or threat to a person's life as a direct result of the condition.
A rating of “1” signifies that the article demonstrates that the condition has been diagnosed for at least 12 months with an incurable condition, but does not address an impact on quality of life nor employment. A rating of “2” signifies that the article demonstrates a diagnosis of at least 12 months as well as an inability to maintain gainful employment, but does not address the issue of employment. A rating of “3” signifies that the article demonstrates a diagnosis of at least 12 months, an inability to maintain gainful employment, as well as an impact on a person's quality of life and/or a threat to their life. From this analysis, only articles which directly addressed all 3 of the criteria, were reviewed in the final phase. All articles receiving a score of “3” were reviewed to determine what, if any, severity thresholds were identified in each manuscript. This synthesis was conducted from the interpretative stance, as defined by Dixon-Woods and colleagues (2005). The interpretative stance is an alternative review process. The end result of this synthesis was integrative in that it did not seek to aggregate data for analysis such as done in a meta-analysis, but rather to focus on the conceptual themes around disease burden and severity for Smith-Magenis syndrome as the condition relates to the criteria set forth by the Social Security Administration. This method enabled the inclusion of case series and case reports as important evidence for review. Severity and intensity levels were compared to the SSA definition of disability as well as the CAL criteria to determine if severity indices screen in or screen out certain severity levels or exclude SMS entirely in relation to the CAL program.
Using this method, 794 articles were identified through an initial search, with 780 articles reviewed in regard to the inclusion criteria. Thirty-one articles were identified that met at least one of the three criteria set forth by the Social Security Administration in their definition of “disability.” One article was subsequently excluded as the authors did not refer to the impact of SMS symptoms specifically enough. Of the 30 articles reviewed during the coding process, four articles were coded as a “1” (demonstrating that the condition will last beyond 12 months), 17 articles were coded as a “2” (lasting 12 months plus an inability to maintain gainful employment), and eight articles were coded as “3” (demonstrating full disability criteria, including diagnosis of 12 months or longer, impact on quality of life or death, and impact on gainful employment). See Figure 1 for a visual depiction of this method and Table 1 for a description of the nine articles which provided evidence for the full criterion.
In terms of the first disability criterion, a condition must last for a continuous period of at least 12 months. Individuals with SMS can expect the condition to last a lifetime. At this time, there is no cure or treatment for SMS, though treatment for some of the symptoms is available (Smith, Magenis, & Elsea, 2005). At evidenced in Table 1, in each of the eight cases which met full coding criteria, individuals were diagnosed with a genetic mutation, and also clinically assessed. The subjects discussed in these studies were of a variety of ages, which was provided in Table 1 to show the range of subjects mentioned in the literature. Once diagnosed management of the disorder most likely became the focus of treatment since dissolution of SMS is not possible.
The second disability criterion requires that there is evidence of an impact on a person's quality of life or that the condition may result in death. There is no evidence in the literature that SMS leads to an early demise, and reports of adults living into their 70s exist (Udwin, Webber, & Horn, 2001). As evidenced by criteria two, in Table 1, there is no doubt that SMS affects quality of life. Children and adults with SMS appear to be under constant care from others, and appear to be dependent on this care in most cases. Additionally, there are no reports in the literature of individuals with SMS bearing children, though anecdotal reports indicate that this has occurred and the children are either cared for by grandparents or have been adopted. The majority of study samples continue to live at home with their parents, or in residential care (Finucane, Dirrigl, & Simon, 2001; Sloneem, Oliver, Udwin, & Woodcock, 2011; Udwin, Webber, & Horn, 2001).
It is important not to underestimate the impact of the behavioral difficulties, including sleep issues, which affect the daily functioning and quality of life for this population. Patients with RAI1 mutations (10%) are reported to experience less of motor delay, compared to those with 17p11.2 deletions. These patients may also be higher-functioning. While their severity may seem mild, these patients often struggle with overeating and obesity issues (∼90 percent for weight and height percentiles). In addition, these patients may exhibit higher frequencies of insertion of foreign objects into body cavities, dental and eye irregularities, and upper body squeezing (Girirajan et al., 2006).
Those with small deletions of 17p11.2 may be less likely to exhibit flattened heads, dental and eye irregularities, banging on the head, and hyperactive behavior (Girirajan et al., 2006).
While the prevalence of behavioral difficulties in those with large deletions is decreased, this is due to the fact that large deletions of 17p11.2 may lead to more profound intellectual disability and other mobility-limiting features (Girirajan et al., 2006). Other authors (Finucane, Dirrigl, & Simon, 2001) reported an inverse relationship between level of functioning and severity of self-injurious behaviors. In their study of 29 SMS individuals (age range 1.78 to 49.04 years) an increase level of functioning was correlated with a higher level of severity of self-injurious behaviors.
Though diagnosis of SMS occurs for both males and females, females are more likely to be nearsighted, may have eating disorders, experience coldness in their extremities, and have language difficulties leading to communication issues (Girirajan et al., 2006).
The third disability criterion requires evidence that the condition interferes with substantial gainful employment. This is evidenced in criteria three in Table 1, in which the situation of those described in the literature are delineated in an attempt to provide an understanding of why these individuals are unable to participate in the national economy to the fullest extent. In some cases the individuals described are children, and their residential schools or specialized care centers are noted. In the cases in which the sample included mostly those under the age of 18, evidence was provided to indicate that it was likely based on their current circumstance that they have difficulty achieving substantial gainful employment in the future. Bass & Speak (2005) describe a woman who is now 36 years old age, but as a child required specialized education given the severity of behavioral difficulties exerted. At that time of their writing, the woman was in an inpatient unit, subjected to frequent restraint, and often required fast-acting tranquilizers for behavioral control. In a sample of 21 individuals diagnosed with SMS described in the eighth entry, most required support for almost all of their activities of daily living and were described as “dependent on staff” (Udwin, Webber, & Horn, 2001, p. 827). The individuals were unable to travel on their own. Out of the sample of 21 individuals, 18 of them could be alone for an hour, while none of the individuals could be unsupervised for any amount of time. One adult worked in a shelter workshop setting (which would not result in meeting the $1,130 per month benchmark set for substantial gainful employment in 2016), while the rest spent their days in day habilitation centers or training workshops. Six attended college courses previously, while six were still attending classes at the time of the study. None of these 21 adults lived independently; instead the arrangements were split between residing with parents (n=11), group homes or residential community settings (8), and two resided in boarding schools (Udwin, Webber, & Horn, 2001). In another study, approximately 84% of the SMS sample lived at home with their parents, while almost 16 percent were cared for in residential care settings (Sloneem, Oliver, Udwin, & Woodcock, 2011). Gropman and colleagues (2006) note that adults with SMS may rely much more on caregivers than is evident given their moderate intellectual disability.
Manifestations of SMS are often uniform in presentation, though questions remain as to whether complex behavioral and neurodevelopmental outcomes are due to a deletion in 17p11.2 or a mutation of RAI1. It remains difficult to ascertain whether a 17p11.2 deletion leads to a more or less severe presentation than an RAI1 mutation. While the mutation may appear to cause a milder presentation, other disabling features of the condition offset this and can lead to a severe presentation (Girirajan et al., 2006), which may interfere with one's capacity for substantial gainful employment.
Smith-Magenis Syndrome is a genetic condition that will undoubtedly affect individuals for a lifetime (Smith, Magenis, & Elsea, 2005), impact quality of life significantly, and according to the empirical literature, will substantially limit or prohibit substantial gainful employment. It is recommended that this condition receive strong consideration for addition to the CAL.
The CAL provides a benefit to both the Social Security Administration and its respective claimants. By identifying diagnoses that invariably meet the criterion for disability, claimants may experience an expedited review time and the Social Security Administration can expect to see a decrease in their backlog of applications. This evaluative review provided an example of a novel method to identify and evaluate those diagnoses that may be considered for inclusion in this initiative. Limitations to this review exist. The time frame for exploration of databases was from 2000 to 2013. Pertinent literature may be available prior to this timeframe, and this limiter may have excluded evidence. Only available full-text articles written in English were included to provide sufficient review, though steps were taken to procure unavailable manuscripts from two different institutions of higher learning. This review did not utilize meta-analysis techniques, and opted instead for interpretive synthesis (Dixon-Woods, Agarwal, Jones, Young, & Sutton,2005). A future study of this kind utilizing meta-analysis may yield more detailed quantitative results, though this may exclude the single case studies which provided in-depth information on the extent and course of these conditions.
This evaluative review provided an in-depth examination of the extent to which Smith-Magenis syndrome invariably met or failed to meet the definition of disability provided by the Social Security Administration. The results of this review strongly indicate that Smith-Magenis syndrome receive consideration for inclusion in the CAL.
The research reported herein was performed pursuant to a grant from Policy Research, Inc. as part of the U.S. Social Security Administration's (SSA's) Improving Disability Determination Process Small Grant Program. The opinions and conclusions expressed are solely those of the author(s) and do not represent the opinions or policy of Policy Research, Inc., SSA or any other agency of the Federal Government.