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Diagnosing pervasive refusal syndrome difficult due to symptoms overlap: Local case study

BY Ruwan Laknath Jayakody

There are difficulties in identifying the symptoms of and diagnosing pervasive refusal syndrome, a local case report on the syndrome in the context of the autism spectrum disorder noted.

This was emphasised in a brief report on “Pervasive refusal syndrome in autism spectrum disorder: Difficulties in diagnosis” which was authored by U.R. Attygalle, L.M.E.U. Guneratne, and M.R.S. Jayasekara and published in the Sri Lanka Journal of Psychiatry’s 10th Volume’s First Issue in June 2019. 

Background

Autism spectrum disorder is a developmental illness which is characterised by deficiencies and problems with social communication, social interactions, the presence of restricted interests, and repetitive behaviours.

Pervasive refusal syndrome, Attygalle et al. noted, is a rare childhood psychiatric condition which as described by T. Jaspers, G.M. Hanssen, J.A.V.D. Valk, J.H. Hanekom, G.T.V. Well, and J.N. Schieveld in “Pervasive refusal syndrome as part of the refusal withdrawal regression spectrum: Critical review of the literature illustrated by a case report”, involves a profound and pervasive refusal to eat, drink, talk, walk, and engage in any form of self care, which in turn leads to a marked reduction in the quality of life. Explaining further, Jaspers et al. added that children suffering from this condition usually exhibit clear fluid refusal, weight loss, social withdrawal, social refusal, and partial or complete refusal of two or more of the following: i) mobilisation, ii) speech, iii) attention to personal care, and iv) active and passive resistance to acts of help and encouragement. 

Also, Jaspers et al. noted that in order for pervasive refusal syndrome to be considered, the affected individual should i) not have an organic condition, and ii) another psychiatric disorder should not better account for the symptoms as some of the condition’s symptoms overlap with many other psychiatric disorders (which as “Pervasive refusal syndrome among asylum seeking children” by L.L.V. Folsach and E. Montgomery, and “Pervasive refusal syndrome in autism spectrum disorder” by E.C. Bond and R.Y. Oliphant noted, makes diagnosis difficult). 

According to both Jaspers et al. and “Pervasive refusal syndrome” by B. Lask, females are more prone to develop this condition; however, autism spectrum disorder is much more common among males. The mean (average) age of presentation, Jaspers et al. found, is around 10.5 years. It is, however, per Bond and Oliphant, not yet included in the major psychiatric classifications. 

The prognosis, however, is generally good, with Lask noting a high rate of complete recovery (67%); that said, the recovery process is described as being painfully slow, with an average of 12.8 months.

Treatment, as per Lask and “Managing pervasive refusal syndrome: Strategies of hope” by K.P. Nunn, S.L. Thompson, S.G. Moore, M. English, E.A. Burke, and N. Byrne, usually requires a multidisciplinary approach that should also be done with patience, gentle encouragement, and tender loving care. 

As to the aetiology of the condition, per Attygalle et al., a pre-morbid perfectionist personality and a sense of helplessness, per Jaspers et al., appear to play an important role. 

Hence, Attygalle et al. reported on the first such case in Sri Lanka of a child with autism spectrum disorder presenting with this condition.

Case report

The patient was a 12-years-and-three-months-old boy who had a pre-existing diagnosis of autism spectrum disorder. He was attending a regular school and was capable of attending to his day-to-day activities. He presented to a clinic with a history of refusal symptoms over the course of two months. At the time of presentation, the main symptoms were apathy, refusal to eat, weight loss, mutism, refusal to attend school, refusal to engage in personal care, and social withdrawal. He was also seen to be monotonously and repetitively drawing the same picture of the Buddha. There was a history of bullying at the school, after which, he had refused to go to school. When he did occasionally eat, he ate alone, and avoided other family members. He was also resistant when his parents attempted to help. The refusal symptoms, it was observed, were more in relation to the parents. 

The mental state examination did not reveal any psychotic symptoms. The child was also seen by a paediatric neurologist, and assessments and investigations revealed no neurological abnormality or catatonia (a neuropsychiatric behavioural syndrome that is characterised by abnormal movements, immobility, abnormal behaviours, and withdrawal). 

Treatment consisted of inputs from occupational therapy, community nursing, and medical and psychiatric professionals, which required both regular hospital visits and family interventions, with the psychotherapeutic treatment being of a supportive nature. The patient was also started on a low dose of an antidepressant. 

Within several months following treatment, he began to interact with others, the repetitive drawing became less frequent, he began to eat and drink (initially in small amounts, and gradually taking full meals that were served at home), the pattern of refusing help gradually diminished, and he also started to communicate with family members and made conversation with the clinic staff. Subsequently, he returned to school.

Since the manifestations of the features of food refusal or selectivity, the refusal to engage in activities of personal hygiene, and mutism or the lack of communication with others can also be manifestations of autism spectrum disorder or depression, during diagnosis, the possibilities of such, as W.H. Ahearn, T. Castine, K. Nault, and G. Green noted in “An assessment of food acceptance in children with autism or pervasive developmental disorder – not otherwise specified”, need to be considered. 

Another differential diagnosis would be, G. Krebs and I. Heyman’s “Obsessive compulsive disorder in children and adolescents” added, obsessive compulsive disorder, which, as M. Chowdhury, H. Rahman, M.S. Mullick, and S.M. Arafat elaborated in “Clinical profile and comorbidity of obsessive compulsive disorder among children and adolescents: A cross-sectional observation in Bangladesh”, is an egodystonic (refers to thoughts and behaviours including dreams, compulsions, and desires, that are in conflict, or dissonant, with the needs and goals of the ego, or in conflict with the person’s ideal self image) condition compared to the repetitive behaviours seen in autism spectrum disorder. 

Regardless, Attygalle et al. pointed out that in the instant case, the primary feature of the boy’s condition was of refusing help which was seen across many domains while no egodystonicity associated with his repetitive drawings could be elicited (this is sometimes not possible in children, as their ability to understand and describe their emotions may be limited). 

In the final diagnosis, Attygalle et al. explained that the child in question manifested features of autism spectrum disorder, features suggestive of obsessive compulsive disorder and depression, and additionally, features of the pervasive refusal syndrome.

Bond and Oliphant reported a case in the UK of a boy child with an established diagnosis of autism spectrum disorder, presenting with severe restriction of food and fluids, total mutism, school refusal, urinary and faecal incontinence, and communicating solely through typing on an iPad. Another case, as narrated in “The youngest case of pervasive refusal syndrome?” by S. Taylor, D.R. Dossetor, H. Kilham, and E. Bernard, concerned a four-year-old boy with a differential diagnosis of autism spectrum disorder (no prior or concurrent diagnosis) or generic pervasive refusal syndrome.