Autism and trichotillomania in an adolescent boy

Abstract

An adolescent with autism spectrum disorder and improperly treated attention deficit hyperactivity disorder presented with recurrent hair pulling. Treatment with selective serotonin reuptake inhibitor and stimulant improved these conditions.

Background

The occurrence of trichotillomania in children or adolescents with autism spectrum disorder (ASD) is uncommonly reported. The neurobiological pathogenesis through serotonergic pathway, impulsiveness in the context of hyperactivity and self-stimulatory mechanism could explain hair pulling in this group of patients.

Case presentation

A 16-year-old adolescent was first diagnosed with ASD when he was 9 years old. His primary school teachers had earlier noticed that he was not able to speak spontaneously and seemed to avoid eye contact a lot. Most of his speech came from the repetition of words from his classmates and teachers. There were occasions where he would clap his hands unnecessarily whenever he appeared to be frustrated or excited. Despite these reactions, he was not able to initiate any conversation and hence had no friends.

Following his diagnosis, he started special education in a centre for children with ASD for 3 years before continuing the rest of his school years in government schools which provided special education. Despite having 1:7 teacher:student ratio, his teachers found him difficult to be managed as he was frequently restless and fidgety during learning sessions. Sometimes he even scampered in the classroom as his teachers attended to other students. He could not queue or wait for his turn. Similarly at home, it was hard to keep him seated as he was always moving. Despite these symptoms of hyperactivity, he never became physically aggressive. When he got excited, he would either clap hands or show writhing arm movements. With this presentation, his parents were consulted on starting a stimulant to control his hyperactivity. Although they agreed, the medications were not served properly as the parents preferred to go without medications and believed he would ‘grow out’ of hyperactivity as he grew up. On average, he only received the medications about 2–3 times per week. Meanwhile, his school teachers struggled to keep him focused at school by giving him simple activities and putting less expectations on him.

Despite the challenges in his treatment, occupational therapists and speech therapists had managed to help him develop some basic self-care and occupational skills and form simple sentences over the years.

During one of his recent psychiatric appointments, his mother alerted that he has begun pulling his hair for the past 5 months. His parents first noticed patches of baldness over his head and initially thought that he might have attempted to cut his own hair. Through their observations and on his confession, he would pull strands of hair as he felt restless and began pacing around his room. This would occur between 2 and 5 times per day initially, only to become more frequent over the past 1 month. As a result, there were random patches of bald areas on his scalp. Floor space in his room was always full of hair strands. Other than scalp hair, this behaviour did not involve the eyebrows, armpits or pubic area. His parents would scold him and hold his hands whenever he tried to pull hair but he would fight them off and continued pulling. Initially, his parents thought that it would eventually subside, but when the behaviour increased, they decided to seek medical help.

Just prior to the onset of hair pulling, he had started to refuse to go to school. In addition, he developed a new habit of switching his bedroom lights on and off repeatedly. Further inquiries with the school authorities revealed no problem arising from his classroom environment, teachers or classmates. He was not suffering from bullying. In fact, his teachers had observed improvement in his involvement with the class activities over the previous years.

He was born full term via caesarean section due to hand presentation, but he was stable postnatally without any complication. In his early childhood, he developed rigid preference toward hard and crunchy food like nuts, biscuits and fruits like apple. He would reject soft or watery food like porridge, watermelon or soup. He had delayed speech development and only began walking when he was about 2.5 years old. He only began babbling when he was almost 2 years old and could only form up to two-word sentences throughout his school years. His echolalia had been prominent from the beginning.

Physical examination showed an obese adolescent with body mass index of 31. There were patches of baldness over frontal scalp and occipital areas—regions where hairs were much shorter than other parts. There was no inflammation or skin lesion. He was able to seat throughout his clinic session but kept moving his legs and touching his hair.

Investigations

His full blood counts, fasting blood glucose, thyroid function, liver function and renal functions were normal. CT brain imaging showed no abnormalities.

Wechsler Intelligence Scale for Children-Fourth Edition showed full-scale IQ of 86 indicating low average range. Specific measures showed widespread low scores in Verbal Comprehension Index, Perceptual Reasoning Index, Working Memory Index and Processing Speed Index.

Conner’s Parent and Teachers’ Rating Scales both suggested attention deficit hyperactivity disorder (ADHD) with predominant hyperactivity. Child Behaviour Checklist 6–18 showed clinically significant anxiety problems and attention deficit/hyperactivity.

Differential diagnosis

The adolescent was diagnosed with ASD and ADHD with predominant hyperactivity, as well as comorbid intellectual disability and trichotillomania. This is based on the Diagnostic And Statistical Manual of Mental Disorders (DSM)-5 criteria which he fulfilled, as he had shown deficits in social–emotional reciprocity and failed to initiate social interactions. He also had poor non-verbal communication and interest in developing peer relationship. He had echolalia, stereotyped motor movement and uncompromising adherence to same dietary regime. His social communication has always been below that expected for his developmental level. These symptoms have presented much earlier in his life but only came to light when his teachers pointed them out to his parents.

Apart from ASD features, he had also fulfilled DSM-5 criteria for ADHD with hyperactivity as the predominant presentation, as he often fidgeted, left his seat when he was expected to remain seated, inappropriately ran around, was observed to be restless and had difficulty waiting for is turn. The DSM-IV Text Revision stated that having ASD would have ruled him out from suffering ADHD concurrently. But this is not the case with DSM-5 because codiagnosis of the two conditions is now allowed. In addition to these two disorders, this patient also has trichotillomania as he could not resist the urge to pull out his own hair and would appear restless, indicating intense anxiety when he was unable to do so. There was no associated inflammation or evidence of hallucinatory experience which he could have acted on.

A differential diagnosis that was given a thought was generalised anxiety disorder as he frequently appeared restless, especially around the time he began school refusal and pulling his hair. The patient was unable to volunteer symptoms of constant worry or other somatic symptoms pertaining to DSM-5 criteria for this anxiety disorder. In reality, in the setting of ASD, this diagnosis can be quite hard to fulfil. Nevertheless, studies showed that a large number of individuals with ASD had at least one type of anxiety disorder, although they may exhibit atypical presentations of anxiety. As people with ASD may experience anxiety related to their social communication and sensory challenges, it should be borne in mind that many behaviours which we thought are suggesting anxiety disorders may in fact not meet the DSM criteria for them.

Treatment

Biopsychosocial approach was applied for this patient. Earlier in his treatment phase, methylphenidate 5 mg and subsequently 10 mg per day was started for his hyperactivity but the treatment regime was not followed by his parents. Fortunately, occupational therapy and speech therapy sessions had helped him throughout the years. Later, sessions with a clinical psychologist were also arranged to help modify his behaviour. Assessment for behavioural modification during the middle part of his treatment phase showed parental use of physical restraints in the past, while they never used reinforcement. Therefore, the parents were trained to apply star chart/reward system for target behaviour. For example, if he was able to get up early and go to school, he would receive barbecue treat once he reached a certain number of stars in the chart.

After the diagnosis of trichotillomania was made, behaviour modification techniques including applying hand lotion, olive oil or vaseline to the scalp area were tried. His parents also practised positive reinforcement like rewarding him with good food if he managed to stop his hand from pulling but these measures were unsuccessful.

With regard to pharmacotherapy, his parents were educated on the importance of medications for his hyperactivity and hence methylphenidate 10 mg daily was recommenced. Subsequently, he was also prescribed with tablet fluvoxamine 25 mg ON which was titrated up to 50 mg ON. Unfortunately, he developed somnolence after the first 50 mg dose so the dose was reverted to 25 mg ON. He tolerated the new dose better. His parents later observed that his hair pulling dramatically reduced after 2 weeks of continuous consumption of the two medications. Finally, trichotillomania resolved by the end of first month of treatment. In addition, the patient became more calm, patient and not as restless as before.

Outcome and follow-up

We had aimed to continue the medication for 6–8 months before discontinuing it and watching out for any recurrence. Unfortunately, his parents stopped his follow-up once trichotillomania was resolved. They only brought him back to his treating psychiatrist a year later when they found him to be more hyperactive than before. By this time, he frequently ran out of home to a field nearby or around his unsafe neighbourhood. As he fulfilled the ADHD criteria, he was restarted on methylphenidate 10 mg daily, which he responded tremendously to.

Discussion

The term trichotillomania may carry some negative connotations and for this reason, ‘hair pulling disorder’ is a more commonly used term. In the latest DSM’s ‘Obsessive Compulsive and Related Disorders (OCRD)’ chapter, the condition requires the presence of increasing sense of anxiety right before pulling hair or on resisting the urge to pull, followed by a sense of relief after the hair is pulled.¹ Similar to the illustrated case, it is an interesting fact that trichotillomania may be followed by postpulling rituals like disposing, biting or even ingesting the pulled hair.² Another interesting associated clinical feature is the two pulling styles, that is, ‘automatic’ during which trichotillomania is performed out of conscious awareness and ‘focused’ when there is a purposeful process leading to hair pulling.

Unfortunately, the lack of understanding of the pathophysiology of trichotillomania interferes with its proper classification and treatment of the disorder,³ especially when its conceptualisation under the umbrella of OCRD makes it hard to distinguish it from obsessive compulsive disorder.² Hence, making diagnosis is very challenging particularly in children, in whom multiple sources of information are necessary. Providentially, there are assessment scales available focusing on its symptoms, severity, functional impairment and comorbidity such as the Clinical Global Impression Scale and Massachusetts General Hospital Hair Pulling Scale.⁴ Although not trichotillomania-specific, a hair pull test may be conducted at four locations on the scalp,^{5 6} while trichoscopy and skin biopsy of the affected scalp may help confirm trichotillomania.⁶ The subsequent perils in the form of unwanted medical consequences including skin damage secondary to the use of sharp instruments, trichophagia, trichobezoars and intestinal obstruction^{2 6 7} justify the effort which should be put in diagnosing trichotillomania. Apart from these complications, a rare Rapunzel syndrome may develop as a result of trichophagia and trichotillomania.^{8 9} As the name suggests, this syndrome is derived from the Brothers Grimm’s fairy tale about Rapunzel, and was so named when the enmeshed trichobezoar mass is discovered with its rope-looking tail in the small bowel or right colon.⁹

There are many possible aetiologies of trichotillomania in ASD. It has been suggested that it helps regulate the emotional states of children or adolescents afflicted within the spectrum,⁴ where the habit may offer means for them to escape from aversive experiences. Subsequently, the experience of temporary relief may maintain the behaviour, thus leading to more frequent repetitive sensory motor behaviour.¹⁰ Apart from this, sensory processing disintegration has been offered as another underlying pathology. As such, language delay may be related to auditory processing problem while difficulty with reading emotion from faces may indicate visual processing dysfunction.¹¹ Patients with under-responsive sensory processing disorder requires stimulation to remain alert and active, while patients in the over-responsive subtype requires to be soothed to cope with daily life routine. Since sensory stimulation targets sites with numerous nerve endings like hands, feet, mouth and scalp, repetitive behaviours like trichotillomania are commonly seen in ASD. At a cellular level, serotonergic and dopaminergic dysfunctions are implicated in the pathophysiology of trichotillomania.^{2 12} Finally, increased prevalence of ADHD has been reported in patients with trichotillomania¹² and, hence, this could explain the situation in the illustrated case. Despite these possible causes, the use of methylphenidate in ADHD treatment itself has been reported to induce trichotillomania.¹³

From the treatment view, behavioural therapeutic approaches cognitive behavioural therapy and habit reversal therapy have been shown to be more effective than pharmacotherapy in most cases.⁴ Another possible therapy involves identifying and teaching the patient to eliminate the triggering factors, a technique known as stimulus control. Patients’ sensory stimuli might be reduced through a simple effort like putting bandages on the fingers they use to pull, in order to reduce the sensory stimulation produced by rolling fingers after the hair pulling.² In the illustrated case, it was hard to depend on behaviour modification alone as the patient may not be that cooperative. On the other hand, although pharmacological approaches lack solid clinical evidence, it is worth mentioning that pharmacotherapeutic research on trichotillomania involved a wide variety of medications ranging from antidepressants, mood stabilisers, opioid antagonists and glutamate modulators.¹⁴ The adolescent in the case report received fluvoxamine which tremendously cured his trichotillomania. In fact, selective serotonin reuptake inhibitors have been the practice and mainstay treatment of trichotillomania in autism.^14–17 Nonetheless, treatment using methylphenidate in our case was proven to result in a significant improvement¹²; the same study also found no significant change in trichotillomania. Haloperidol, a conventional antipsychotic, was also used following the observation that major tranquillisers reduce stereotypies, with the concept that trichotillomania is a stereotypic behaviour in ASD.¹⁸

Considering that trichotillomania has anxiety features, it was indispensable to rule out anxiety disorder in this case. A large longitudinal outcome study even showed that children with trichotillomania experience increasing anxiety and depressive symptoms as trichotillomania persists,¹⁹ although some eventually have symptom improvements. Almost 40% of adolescents with ASD had at least one comorbid anxiety disorder including, specific phobia and social anxiety disorder.²⁰ Perhaps, a striking distinguishing presentation between anxiety disorders and ASD is the presence of normal social skills in individuals with anxiety disorders. Furthermore, unlike those with ASD, they generally maintain an interest to be socially engaged. Nonetheless, people with ASD can have anxiety, and recent studies showed these individuals may express anxiety in both similar and dissimilar ways as described in the DSM criteria.²¹

The concurrence of trichotillomania in an adolescent with ASD sparks interest and generates a reminder that a person diagnosed with ASD is not resistant towards another psychiatric disorder. While the success of pharmacological treatment in autism is limited, trichotillomania occurring in this group of children responds well to serotonergic medications.

Patient’s perspective.

From the parents—‘We didn’t want to give him too much of medications. When he improved, we preferred to stop the treatment. He was alright, he was not aggressive.’

Learning points.

• Restlessness might be a symptom mutually shared by autism spectrum disorder, attention deficit hyperactivity disorder, anxiety disorder and trichotillomania.

• Trichotillomania in an adolescent with hyperactivity responds well to the combination of selective serotonin reuptake inhibitor (SSRI) and methylphenidate.

• Adolescent with autism and trichotillomania responds to low dose of SSRI hence suggesting strong serotonergic pathogenesis in the later.