Can Obsessive-Compulsive Symptoms Occur in People with a Rare Genetic Syndrome?

What you need to know

• This is the first reported case of obsessive-compulsive symptoms occurring in a person with a rare genetic disorder called Baraitser-Winter syndrome.
• The patient had symptoms of obsessive-compulsive disorder (OCD) as well as characteristics of Baraitser-Winter syndrome, including facial differences and hearing loss.
• Brain scans showed changes in areas involved in OCD, suggesting a possible link between the genetic syndrome and obsessive-compulsive symptoms.
• More research is needed, but this case indicates that people with Baraitser-Winter syndrome may benefit from being evaluated for obsessive-compulsive symptoms.

Understanding obsessive-compulsive disorder

Obsessive-compulsive disorder (OCD) is a mental health condition that affects about 2-3% of people. It involves having unwanted, intrusive thoughts (obsessions) and feeling compelled to perform repetitive behaviors or mental acts (compulsions) to relieve anxiety. For example, someone might have obsessive fears about germs and feel compelled to wash their hands excessively.

OCD can significantly impact a person’s daily life and functioning. While the exact causes are not fully understood, OCD is thought to result from a combination of genetic and environmental factors. In some cases, OCD-like symptoms can occur as part of other medical or neurological conditions.

What is Baraitser-Winter syndrome?

Baraitser-Winter syndrome is a very rare genetic disorder that affects many parts of the body. It is caused by mutations in genes that provide instructions for making proteins involved in cell structure and movement.

People with Baraitser-Winter syndrome often have distinct facial features, such as a wide face, widely-spaced eyes, droopy eyelids, and low-set ears. Other characteristics can include:

• Hearing loss
• Vision problems
• Intellectual disability
• Short stature
• Heart defects
• Brain abnormalities

There are two types of Baraitser-Winter syndrome, depending on which gene is affected. Type 2 is caused by mutations in the ACTG1 gene.

The case study: OCD symptoms in a patient with Baraitser-Winter syndrome

This research paper describes the case of a 25-year-old man who was admitted to a psychiatric hospital for severe obsessive-compulsive symptoms. He had a long history of OCD starting from age 15, with symptoms getting much worse over the past year.

The patient’s main symptoms involved excessive hand washing (40-50 times per day) and cleaning rituals that took 4-5 hours daily. These compulsions were interfering significantly with his daily life and functioning.

In addition to OCD symptoms, the patient had several characteristics of Baraitser-Winter syndrome:

• Distinct facial features like a wide face and droopy eyelids
• Hearing loss in both ears
• Lower than average intelligence (IQ of 85)
• History of vision problems and eye surgery
• Mild developmental delays as a child

Genetic testing confirmed that the patient had Baraitser-Winter syndrome type 2, caused by a mutation in the ACTG1 gene.

Brain differences found on scans

The researchers performed brain scans and analysis on the patient. They found some noteworthy differences compared to typical brains:

• Less gray matter (brain tissue containing nerve cells) in parts of the parietal lobe, an area involved in sensory processing and spatial awareness.
• Signs of atrophy (shrinkage) in several brain regions, including:
  • The orbitofrontal cortex, which plays a key role in decision-making and behavior regulation
  • The occipital cortex, involved in visual processing
  • The right mesiotemporal region, important for memory and emotion

Interestingly, many of these brain areas are part of circuits that are thought to function abnormally in OCD. The orbitofrontal cortex in particular is believed to be overactive in people with OCD.

The researchers also found some unusual electrical activity in the patient’s brain, particularly rhythmic slow wave activity in the back of the brain and right temporal region.

Possible connections between the syndrome and OCD symptoms

This appears to be the first reported case of obsessive-compulsive symptoms occurring in someone with Baraitser-Winter syndrome. While it’s impossible to draw firm conclusions from a single case, the researchers propose some possible explanations for why these conditions might be related:

1. Shared genetic factors: The ACTG1 gene affected in this patient provides instructions for making a protein involved in cell structure and movement. Some previous research has found differences in genes related to cell structure in people with OCD. It’s possible that disruptions to these cellular processes could contribute to both Baraitser-Winter syndrome and OCD symptoms.

2. Brain development effects: Baraitser-Winter syndrome can cause abnormal brain development. The brain differences seen in this patient overlap with areas implicated in OCD. It’s possible that the genetic mutation leads to changes in brain circuits involved in obsessive-compulsive behaviors.

3. Psychological factors: The challenges associated with Baraitser-Winter syndrome, like hearing loss and cognitive difficulties, could potentially increase stress and anxiety. This might make someone more vulnerable to developing obsessive-compulsive coping behaviors.

More research would be needed to determine if there’s truly a biological link between Baraitser-Winter syndrome and OCD, or if this case was just a coincidence. However, this study raises the possibility that people with this rare genetic disorder may be at higher risk for obsessive-compulsive symptoms.

Treatment approach

The patient in this case study was treated with a combination of medication and psychotherapy, which are standard treatments for OCD:

• He was given the antidepressant medication sertraline, which helped reduce his compulsive washing and cleaning behaviors.
• He also received cognitive-behavioral therapy, specifically a type called exposure and response prevention. This involves gradually facing feared situations while resisting the urge to perform compulsions.

The patient showed improvement with this treatment approach. Importantly, getting an explanation for his symptoms through genetic diagnosis seemed to reduce feelings of self-blame or stigma.

Implications and future directions

While this is just a single case study, it opens up some interesting possibilities for future research and clinical practice:

1. Screening for OCD: The authors suggest that other patients with Baraitser-Winter syndrome should be evaluated for obsessive-compulsive symptoms. Early identification could help people access appropriate treatment.

2. Insights into OCD causes: Studying rare genetic conditions that co-occur with OCD symptoms may provide clues about the biological processes involved in obsessive-compulsive behaviors.

3. Personalized treatment: Understanding the potential genetic and neurological factors contributing to OCD symptoms could eventually lead to more targeted treatments.

4. Reduced stigma: For some people, knowing there may be a biological basis for their symptoms can reduce feelings of shame or self-blame.

Conclusions

• This case study presents the first known report of obsessive-compulsive symptoms occurring in a person with Baraitser-Winter syndrome, a rare genetic disorder.
• Brain scans showed differences in regions involved in OCD, suggesting a possible biological connection between the syndrome and obsessive-compulsive symptoms.
• While more research is needed, this study indicates that people with Baraitser-Winter syndrome may benefit from being evaluated for OCD symptoms.
• Studying the intersection of rare genetic disorders and psychiatric symptoms may provide valuable insights into the biological basis of conditions like OCD.