Category Archives: Research

Quirkiness: The Broader Autism Phenotype #AtoZChallenge

Welcome to another week and another day in the A to Z Challenge on autism. Today’s post is called “Quirkiness” because I couldn’t think of any other relevant word starting with the letter Q. I bet other people have trouble with this letter too. I will focus on the broader autism phenotype, which basically describes people who are quirky. This post is quite involved, so I hope I have explained things properly.

The broader autism phenotype (BAP) describes people who have similar but milder traits than those found in autism spectrum disorder people, and who are not impaired in their functioning by these traits. The broader autism phenotype is particulalry useful for research into the heritability of autism. It is likely that autism is largely a genetic disorder, and this idea is supported by research into the BAP. Non-autistic parents of autistic children more often than parents of neurotypical children exhibit the broader autism phenotype.

So what is the broader autism phenotype? It describes traits that are related to autism and are more common among family members of autistic people. According to Losh et al. (2008), this includes characteristics such as a socially reticent or aloof personality, untactful behavior and fewer high-quality (ie. emotionally reciprocial) friendships. It also includes a rigid personality, little interest in novelty, difficulty adjusting to change and a perfectionistic or overly conscientious personality. Family members of autistic people also exhibit more fear or neuroticism and are at a higher risk of developing anxiety disorders.

Non-autistic parents’ autistic traits are, for research purposes, commonly measured by the broad autism phenotype questionnaire (BAPQ). The BAPQ focuses on the traits and behaviors I mentioned above.

Only 10% to 20% of cases of autism can be explained by a known biological cause, such as a genetic mutation (Sasson et al, 2013). These are often sporadic mutations, meaning they occur in the autistic person only and not their parents.

With the broad autism phenotype, autism symptoms do carry over from one generation onto the next. A large number of autistic children in a study by Sasson et al. (2013) had one parent who displayed the broad autism phenotype. If both parents displayed the BAP, a child was also more likely to be autistic than not. The presence of the broader autism phenotype was also associated with the severity of autistic symptoms. In other words, if one or both parents had autistic quirks, an autistic child was more likely to be more severely affected. Maxwell et al. (2013) found the same: a higher score on the BAPQ in parents was related to more severe autistic symptoms (as measured by the Social Responsiveness Scale) in their children. The parents’ BAPQ score was not related to the child’s IQ, which is a common measure of functioning level in autistics.

References

Losh M, Childress D, Lam KSL and Piven J (2008), Defining Key Features of the Broad Autism Phenotype: A Comparison Across Parents of Multiple- and Single-Incidence Autism Families. Am J Med Genet B Neuropsychiatr Genet, 147B(4):424-433. DOI: 10.1002/ajmg.b.30612.


Maxwell CR, Parish-Morris J, Hsin O, Bush JC, and Schultz RT, The Broad Autism Phenotype Predicts Child Functioning in Autism Spectrum Disorders. J Neurodev Disord. 2013; 5(1): 25. DOI: 10.1186/1866-1955-5-25.


Sasson NJ, Lam KS, Parlier M, Daniels JL, Piven J (2013), Autism and the Broad Autism Phenotype: Familial Patterns and Intergenerational Transmission. J Neurodev Disord, 5(1):11. doi: 10.1186/1866-1955-5-11.

Overeating or Binge Eating Disorder: Is It “Food Addiction”?

I have had issues with disordered eating since early adolescence. I mostly engage in overeating or maybe even binge eating (a binge being a distinct period of severe overeating accompanied by a feeling of being out of control). When I still purged regularly several years ago, I took my eatig issue much more seriously than I do now, despite my overeating/bingeing having gotten worse over time and my weight recently having increased to a number that is within the obese range for my height.

Overeating is often seen as an addiction. I’ve never really seen my eating habits as such, and I wonder what the implications would be if “food addiction” were formally recognized. Curtis & Davis (2014) ask the same question in the conclusion to their qualitative study of “food addiction” in obese women with and without binge eating disorder (BED). In their study, all BED women met criteria for “food addiction” when DSM-5 criteria of substance use disorder were used with food being the substance. Obese women who didn’t suffer from BED also often displayed “food addiction” symptoms. They however attributed their inability to stop overeating more to liking the food or not wanting to stop than to feeling intrinsically unable to stop.

Interestingly, many women in the study weren’t sure whether they were food addicts when directly asked about it. I can relate to this. I at one point participated in an unofficial Overeaters Anonymous online group, and didn’t feel this suit me really. I do notice that I hold many of the same misconceptions about what an addiction is that the study authros found. For example, I tend to believe food cannotbe addictive because we need it, that substance abusers use their substance all the time, etc. The idea of food as an addictive substance does raise questions about what it is to be dependent on a substance. I know that the DSM-5 removed the distinction between substance abuse and substance dependence, and, in a way, this is good. Then again, you can get physically dependent on certain substances, and that makes an addiction to that substance (eg. alcohol) look more real than an addiction to a substance that you won’t develop physical dependence. Addiction to a substance you can’t get physically dpeendnet on, in turn, looks more real than behavioral addictions like “Internet Addiction”. These novel addictive disorder concepts do create fundamental debates about personal responsibility, which do have implications for treatment. After all, an impulse control disorder is treated differently from a substance dependence.

Reference

Curtis C & Davis C (2014), A Qualitative Study of Binge Eating and Obesity From an Addiction Perspective. Eating Disorders: The Journal of Treatment & Prevention, 22(1):19-32. DOI: 10.1080/10640266.2014.857515.

Research Recommendations for Improving Treatment for People with Personality Disorders

Two studies in nursing journals that I read recently examine good practice for personality disorder treatment. Bowen (2013) specifically studied ideas for intervention with borderline personality disorder patients, whereas Fanaian, Lewis & Grenyer (2013) studied more general ideas for implementing personality disorder services. Bowen also emphasized direct intervention strategies, whereas Fanaian et al.’s study more focused on organizational structure. Bowen (2013) interviewed nine mental health professionals, four of whom were nurses, working at a specialist unit for patients with BPD. Key apsects of good practice mentioned by interviewees were:

  • Shared decison making: for example, service users and staff should meet in community meetings to discuss and think through decisions that a service user might otherwise make impulsively. This thinking thorugh also counters black-and-white thinking.
  • Rules should be actively recreated, rather than being strictly enforced or being abandoned. This is an offshoot from the shared decision making in the above bullet.
  • Patients should have social roles, such as jobs on the unit nd group therapy with a pratical focus. This is a way of bringing into the open and then challenging interpersonal difficulties that are so typical of BPD.
  • Social disturubances must not just be prevented, but also be used as an opportunity for learning.
  • Peer support, including feedback on behaviors, but also including compassion. One interviewee also commented that peer support can enhance the patients’ looking inward for the resources to help themselves, rather than viewing the staff as sole bearers of wisdom.
  • Open communication. For example, this unit had a structure whereby three service users were elected to discuss issues happening on the unit with the staff as a means of liaison.
  • Involvement with the person as a whole, seeing them as more than their BPD symptoms.
Bowen (2013) does highlight that not all of these aspects of good practice can be generalized. After all, this unit was a specialist unit for treating BPD and had its structure built so that these aspects of good practice could be met. For example, there were daily meetings, group therapy, and patients had jobs on the ward.

It was found that mental health workers on this unit had a pretty optimistic outlook on recovery from BPD. This is in contrast to research which shows that mental nurses have negative attitudes about BPD patients. Fanaian et al. (2013) emphasize this negative attitude towards people with personaltiy disorders as a major barrier to appropriate care.

Fanaian et al. (2013) had about 60 experienced clinicians in personality disorder treatment, including psychiatrists, psychologists, social workers, a nurse and a counselor sit in groups of four and brainstorm on topics relevant to personality disorder treamment. They overwhelmingly found that current practice in mainstream mental health settings is both poor and inaccurate. Ways to improve practice included:

  • More education and training on the subject. Some groups also recommended that workers in non-psychiatric settings who have frequent contact with personality disorered people, such as social services staff, be trained in personality disorders. Carers, such as family and friends, also were said to need education and training.
  • More support through supervision and leadership. For example, there should be more supportive and regular treatment team meetings. Clinicians also mentioned better access to Internet resources on treatmetn and assessment for mainstream mental health staff. There also should be greater support for staff approaching burn-out, as it was felt that staff working with personality disordered people have a high risk of burn-out and work-related stress.
  • A shift from risk management to recovery-focused treatment and case management. Acute hospitalization should be avoided when possible. Rather, patients with personality disordeers need intensive, multidiscipinary case management.
  • Clearer guidelines and protocols. Many groups of clinicians emphasized a consistent approach across teams, particularly when managing crises.
  • An attitude shift to decrease stigma. Some groups emphasized the fact that many health professionals have a negative attitude about personalityy disorder patietns, and this is a barrier to effective treatment.
Fanaian et al.’s (2013) study, like all studies, has its limitations. The clinicians participating in the study were invited to a personality disorders meeting based on expertise and experience. Therefore, it is not known whether these findings generalize well into mainstream mental health provision.

References

Bowen M (2013), Borderline Personality Disorder: Clinicians’ Accounts of Good Practice. Journal of Psychiatric and Mental Health nursing, 20(6):491-498. DOI: 10.1111/j.1365-2850.2012.01943.x

Fanaian M, Lewis KL, & Grenyer BFS (2013), Improving Services for People with Personality Disorders: Views of Experienced Clinicians. International Journal of Mental Health Nursing, 22(5):465-471. DOI: 10.1111/inm.12009.

Medication Treatment of ADHD Symptoms in Autistic Children

Autistics often have symptoms of ADHD. These symptoms are often treated with medication. About 15% of autistic children take psychostimulants or atomoxetine (Rosenberg et al, 2010). Stimulants are proven to be effective for ADHD in non-autistic children. Whether the same holds true for autistics, however, had not been systematically researched until now. Reichow, Volkmar & Bloch (2013) examined seven randomized, double=blind, placebo-controlled studies comparing methylphenidate, clonidine or atomoxetine to placebo in children with autism spectrum disorders and ADHD symptoms. Four trials were found for methylphenidate, two for atomoxetine and one for clonidine.

According to Reichow et al. (2013), methylphenidate was found to be effective for ADHD symptoms in autistic children. The effectiveness was slightly lower than it is for typically developing children with ADHD but still statistically significant. There was a greater risk of side effects in autistics, particularly for irritability, depression and withdrawal. The risk for common side effects such as insomnia and decreased appetite was similar to that found in typically developing children. One of the studies involved preschool children, and it was recommended by Reichow et al. after reviewing this study that methylphenidate-taking preschoolers with autis be closely monitored due to increased adverse events.

Clonidine and atomoxetine both showed moderate but not statistically significant effectiveness in autistic children (Reichow et al., 2013). These medications warrant further study, also given the fact that only one or two studies were found that met the inclusion criteria for a systematic review.

References

Reichow B, Volkmar FR, & Bloch MH (2013), Systematic Review and Meta-analysis of Pharmacological Treatment of the Symptoms of Attention-Deficit/Hyperactivity Disorder in Children with Pervasive Developmenetal Disorders. Journal of Autism and Developmental Disorders, 43(10):2435-2441. DOI: 10.1007/s10803-013-1793-z.

Rosenberg R, Mandell BS, Farmer JE, Law JK, Marvin AR, & Law PA (2010). Psychotropic Medication Use among Children with Autism Spectrum Disorders Enrolled in a National Registry, 2007-2008. Journal of Autism and Developmental Disorders, 40(3):342-351. DOI: 10.1007/s10803-009-0878-1.

The Childhood Bipolar Controversy Reviewed

Bipolar disorder in children is controversial. It didn’t use to be diagnosed as often as it is now, especially in the U.S., and more atypical symptosm are suggested to be bipolar. In the journal Child and Adolescent Mental Health, Boris Birmaher reviewed the literature surrounding this controversy. It’s an interesting article, viewing the controversy from all sides.

Birmaher starts by describing the diffiuclties diagnosing manic, hypomanic and depressive episodes in children and adolescents. Particularly, it is hard to distinguish symptoms of (hypo)mania from normal episodes of increased activity or from ADHD. Depressed symptoms are also hard to diagnose because children do not always feel or look depressed all the time. Adolescents experiece more atypical symptoms (increased sleep and appetite and weight gain) than adults do. Birmaher discusses whether onepisodic mania can be seen as bipolar.

He fortunately also shreds the idea that irritability only is bipolar. It isn’t. In fact, it is not severe mood dysregulation (also known as disruptive mood dysregulation disorder) eitehr, which surprised me. Irritability only is more indicative of ADHD or disruptive behavior disorders than of bipolar or SMD. Elation only, also, is not common in childhood or adolescent bipolar. More likely, patients experience both irritability and mood elation.

Birmaher is quite clear that pediatric bipolar disorder exists. The prevalence is around 2%, with just over 1% of children and adolescents presenting with bipolar I. For some perspective, Levorich et al. (2007) show that as many as half of adult bipolar patients in their study reported onset in childhood (14%) or adolescence (36%).

Birmaher is not a bipolar proponent, in the sense that he thinks atypical symptoms warrant a diagnosis of BP. He makes it quite clear that more research is needed into the risk factors for converting from atypical or subsyndromal bipolar-like symptoms into full-blown bipolar in children and adolescents. It looks like family history of bipolar is one such factor. Levorich et al (2007) found that, the earlier the onset of bipolar disorder, the more likely the patients were to have a parental history of bipolar or depressive disorders.

Levorich et al. (2007) particularly studied prognosis in adults with bipolar disorder, comparing those with (retrospectively reported) childhood or adolescent onset bipolar to those with onset in adulthood. They found that, the earlier the onset of the disorder, the more likely patients were to suffer from dysphoric (irritable) rather than euphoric mania and the more likely they were to have comorbid anxiety and drug abuse. In addition, the researchers tracked all participants’ mood over a year’s period. This showed that those with early onset bipolar had more depressed episodes, more severe manic and depressive symptoms and fewer good days in a year than those whose bipolar started in adulthood. For these and other reasons, Levorich et al. advocate an active ruling in or outo f bipolar d isorder in children and adolescents, rather than it being considered a last resort diagnosis.

References

Birmaher B (2013), Bipolar Disorder in Children and Adolescents. Child and Adolescent Mental Health, 18: 140-148. DOI: 10.1111/camh.12021.

Levorich GS, Post RM, Keck PE, Altshuler LL, Frye MA, Kupka RW, Nolen WA, Suppes T, McElroy SL, Grunze H, Denicoff K, Moravec MKM, & Luckenbaugh D (2007), The Poor Prognosis of Childhood-Onset Bipolar Disorder. Journal of Pediatrics, the, 150(5):485-490. DOI: 10.1016/j.jpeds.2006.10.070.