An international consortium, including researchers from Boston, has for the first time discovered a handful of common genetic underpinnings for five distinct psychiatric illnesses, providing evidence that disorders such as schizophrenia and autism overlap — and may share fundamental biological causes.

The study is one step in an ambitious effort that could ultimately redraw or blur the boundary lines between psychiatric illnesses, based on a precise understanding of the underlying biology.

Over the past five years, many teams have focused on analyzing genetic variants — spots in the genome that commonly differ among people — to pinpoint the risk factors for disorders. In the new work, published Wednesday in The Lancet, researchers examined genetic data from people with autism, depression, schizophrenia, bipolar disorder, and attention deficit-hyperactivity disorder, and found clues that genes involved in signaling within the brain may go awry in a broad set of psychiatric illnesses.

“This is the first time we’ve seen specific genetic variants that seem to confer risk across traditional boundaries, to a broad range of child- and adult-onset disorders,” said Dr. Jordan Smoller, a professor of psychiatry at Massachusetts General Hospital and Harvard Medical School and a leader of the study. “Each one of them, by themselves, still accounts for a small amount of the risk. The fascinating thing is there might be such variants that cross our clinically distinct syndromes.”

The Centers for Disease Control and Prevention (CDC) estimate that an average of one in 88 children have an autism spectrum disorder (ASD). More children than ever before are being classified as having autism spectrum disorders. The CDC estimates that up to 730,000 people between the ages of 0 and 21 have an ASD.

There is no cure for autism, but it is a treatable condition. Most health professionals agree that early intervention treatment programs are important. Treatment options may include behavioral and educational interventions, complementary and alternative medicine, dietary changes or medications to manage or relieve the symptoms of autism. These treatments may be costly. Some families may spend more than $50,000 per year on autism-related therapies, such as applied behavior analysis. A study in 2006 by the Harvard School of Public Health estimated that it costs $3.2 million to take care of an individual with autism over his or her lifetime and that it costs society an estimated $35 billion each year to care for all individuals with autism.

By Marjorie Ingall
Wednesday, Nov 7, 2012

Pam Byrne’s 20-year-old son, Alex, isn’t living the life she planned for him. But parenting an autistic adult has taught this proud mom the value of strength, devotion-and a sense of humor.

When Alex was born, Pam and Ed Byrne were over the moon. It quickly became clear that their son was not a typical kid: Alex was reading the encyclopedia by age 3, and had an incredible facility with numbers.

But it was plain to Pam, a middle school teacher in Valparaiso, IN, that Alex’s speech and other developmental milestones lagged far behind his amazing brainpower. Pam suspected autism. Sure enough, Alex was diagnosed at age 4.

“It was scary. It wasn’t the life I envisioned for him,” she says. Pam’s own future was of course greatly affected by this news, but she soon learned to take things day by day. “A therapist told me, ‘Always focus on Alex’s strengths, not his weaknesses, because his strengths are what will take him places,’” she says.

Bringing out Alex’s strengths has helped Pam to tap into her own-two of which are her faith and her dry sense of humor. By age 10, Alex, a gentle, mellow kid, had memorized lists of prime numbers (he’s now up to 350) and almost 1,500 digits of pi, a mathematical ratio that most people barely remember learning in high school. But he spoke in two-word sentences for years, wasn’t fully toilet-trained until he was 13 and, like many people with autism, he sometimes engages in repetitive behaviors. “There are times you bargain with God,” she says. “‘If you only make him stop rewinding that videotape over and over, I will give you all the glory! If you only make him go to the potty on his own, I will give you all the glory!’ You have to laugh at it,” she says.

Sixteen years later, largely because of Pam and Ed’s devotion and vigilance, Alex, 20, has come far. Pam blogs about what she’s learned at One Autism Mom’s Notes, emphasizing that what works for her family may not be for everyone. “It’s like, if you have a good recipe, you want to share it, but if you don’t like my shrimp, don’t make it!” she laughs. “That’s totally fine!”

In the case of Asperger’s Syndrome, the now well documented Cassandra Syndrome (7) often comes into play where parties seek help. Mental health professionals often exacerbate the party’s troubles by falling into the pattern of blaming the acutely distressed neuro-typical partner for being an alarmist, for having inappropriate anxiety which feeds into problems and for having unrealistic parenting expectations of the other parent. The more the non-neurologically impaired parent is blamed for the pseudo-conflict the worse it becomes. Mental health professionals and other professionals have a role to play in not understanding Asperger’s Syndrome itself or the role of the Cassandra Phenomenon of which they are a part. Only when they understand the impact of this and other pervasive development disorders have on marriage will they be able to help parties to resolve and manage their post-separation conflict.

It is axiomatic that a problem needs to be identified before it can be resolved. In the classic couple with Asperger’s Syndrome the neuro-typical partner has anxiety and is usually the party who winds up being investigated as being the source of the conflict.(8) This is more than ironic. It places children at risk and it places the neuro-typical parent at-risk of depression or despair.

Separation With a Significant Communication Disorder: The separating high functioning parent on the autistic spectrum and their partner separate with significant discordance, frustration and difficulty. There may be threats and bizarre behaviours. There are commonly stalking-like behaviours.(9)

One AS individual was found by his former wife two years after they had separated in her living room when she came home from shopping. The ex-wife noticed that her computer was humming and she knew it had not shut down properly. The AS partners explanation was without guile “I want to know what you are saying about me to other people.” Two years earlier, this same individual had hacked into her AOL account and confessed later with an apology. He explained, again without guile, that “I wanted to know how you were feeling.” The wife felt violated but she also knew that there had been no intention what so ever to violate. This has also been documented in the literature. (10) Post-separation conflict profile with Asperger’s Syndrome manifests as something that looks like high conflict , but, as noted with the stalking example above, is inherently different in certain key areas.

In 2010 – 2011 we (Dr Lisa Abel and Dr Vicki Bitsika) undertook research to investigate the mental health outcomes of individuals in AS-NT relationships. We specifically focused on the influence of fatigue, resilience and stress (coping) on depression and anxiety in NT partners. Taking a functional analytic approach, we also assessed the extent to which NT partners had experienced reinforcer losses (social, emotional and cognitive) since the onset of their NT-AS relationship. One hundred and 122 partners (113 females) completed the questionnaire component of the research program, and 17 participants completed the interview; 16 of these came from the original sample of 122. The average age of NT partner was 48.6 years, and the average age of their AS partner was 50 years. The average age of the AS partner at diagnosis was 46.5 years. Eighty-one percent of the NT partners taking part in the study were married, and from the interview data the average number of years partners had spent in their NT-AS relationship was 20.5 years (range: 2 years to 46 years). Partners’ scores indicated that they were experiencing mild-moderate levels of anxiety and depression, and it was found that fatigue, resilience and (non-productive) coping were all significant predictors of partners’ anxiety and depression. The interview data revealed many of the partners had experienced a decrease in, and in many cases a cessation of recreational &/or social activity since the onset of their AS-NT relationship. Many partners also reported experiencing increases in anxiety and depression symptoms since the onset of their relationship with their AS partner.

In relation to planning and decision making for their families and/or partnerships, many partners reported having the sole responsibility for this. Partners also reported an absence of free-flowing exchange and emotional content in their communication with the AS partner. Additionally, due to a lack of understanding and support from others, partners reported having difficulty with communicating their relationship experiences and challenges. Overall, there appears to be a pattern of restriction and control in relation to partners’ social, emotional, cognitive and communication behaviours, however, given the nature of AS partners feel as though they need to maintain these behaviours in order to avoid crises. While these compensatory behaviours are designed to manage the day-to-day challenges of their relationships, the long-term outcome is that these behaviours impact upon partners’ health & well-being, as evidenced by partners’ reports of increased anxiety, depression and isolation. Recommendations for NT partners is to re-introduce previous reinforcers – physical activity, social interaction, emotional engagement with others – as a way of helping to facilitate positive coping and increase physical and mental well-being.

Copyright Notice: this summary remains the intellectual property of the authors and cannot be published without their consent.

“Please note that the research manuscript is still a work in progress so the results presented in this summary are preliminary.” – Lisa Abel, Ph.D.

By Tracy McVeigh
Saturday 12 May 2012

Fifty years after the National Autistic Society was set up, the problems of getting a diagnosis are leaving parents frustrated and youngsters isolated.

First they blamed the child, then the parents, then even the doctors. A few later pointed to modern life: computer games or too much television. But after decades of work begun by two remarkable British women, we are now closer than ever to understanding that genetics are responsible for the prevalence of autistic spectrum disorders in children.

Described back in 1979 by Dr Lorna Wing and Dr Judy Gould as a “triad of impairments”, autism is a lifelong developmental disability that affects how a person understands, communicates with, and relates to, other people and the world around them. It is a spectrum condition, which means that while all people with autism share certain areas of difficulty, their condition will affect them in different ways. While a minority of people are severely disabled by the condition, others are exceptionally bright and able to function at a high level in many professions.