Clinical relevance: Movement disorders remain predominant in neurological diseases, with ongoing challenges in diagnosis, yet research has helped with treatment.

Diagnosing and managing hyperkinetic movement disorders in pediatric healthcare remains challenging due to diverse and subtle presentations Restless leg syndrome often worsens during pregnancy, with a multifactorial etiology involving dopaminergic dysregulation, hormonal changes, and increased metabolic demands. A third case study details a 19-year-old transgender woman with Tourette syndrome and ADHD who attempted suicide due to helicopter parenting, highlighting the complex interplay between gender dysphoria, neurodevelopmental disorders, and familial dynamics.

Movement disorders continue to make up the majority of neurological diseases, led by Alzheimer’s and Parkinson’s.

While diagnosis remains a challenge, research and pharmacological advances have made inroads into understanding – and treating – these disorders.

The Primary Care Companion for CNS Disorders has published several papers over the past few years that shed some light on this research. We’ve put together relevant summaries, and links, to these studies for further review.

Challenges to Understanding Complex Childhood Movement Disorders

In pediatric healthcare, diagnosing and managing hyperkinetic movement disorders remains a challenge because of the breadth – and often subtle – presentations. One 2021 report highlights the obstacles primary care providers must contend with while identifying and treating these conditions.

This report recounts multiple case studies that illustrate the nuances of hyperkinetic movement disorders in children. As such, these cases demonstrate that the variety of symptoms – whether stereotypes, chorea, or tics – each demand specific diagnostic approaches.

For example, a 4-year-old boy with repetitive hand flapping and circular walking behaviors, apparently triggered by excitement or stress, represents a typical presentation of stereotypes. 

On the other hand, a 7-year-old with choreiform movements and signs of motor impersistence underscores the importance of recognizing chorea, which scientists often associate with genetic factors.

The diagnostic process for hyperkinetic movement disorders involves comprehensive documentation of medical history, thorough examination, and an analysis of familial predispositions. Family history remains particularly critical in tracking down possible genetic factors and guiding diagnostic investigations – as well as treatment plans.

Managing these disorders demands a diversified approach that includes medication, physical therapy, and advanced interventions. These can include the administration of a botulinum toxin or deep brain stimulation. It all depends on the underlying condition.

But most care providers lean toward a conservative management approach at first, especially when symptoms are milder.

The complexity of differential diagnosis (and treatment) of movement disorders underscores the need for specialized expertise. Conventional wisdom insists that caregivers refer intricate cases – or those that require advanced intervention – to pediatric movement disorder specialists.

Providers must secure a better understanding of these complexities to improve patient care and outcomes in children with hyperkinetic movement disorders. By boosting awareness and diagnostic precision, healthcare providers can better address these unique challenges and ensure appropriate management strategies are part of early treatment.

Investigating Gestational Restless Leg Syndrome in Pregnant Women

Restless leg syndrome (RLS), also known as Ekbom syndrome, exhibits a higher prevalence among women. And pregnancy often triggers – or even exacerbates – the condition. Scientists have dubbed this specific manifestation “gestational restless leg syndrome (gRLS).”

Women struggling with gRLS typically possess a familial predisposition to RLS and face a heightened risk of developing chronic RLS later in life. Other risk factors include smoking, snoring in the first trimester, obesity, and a prior history of RLS or gRLS in earlier pregnancies.

Researchers believe the etiology of RLS, including gRLS, involves dopaminergic dysregulation within the basal ganglia and possible disruptions in transferrin receptors on tyrosine hydroxylase neurons. Hormonal changes during pregnancy, particularly elevated estradiol levels in the third trimester. Increased metabolic demands for iron and folate might also contribute to the onset or inflammation of symptoms.

Clinical diagnosis of gRLS primarily relies on symptoms such as leg cramps, neuropathies, venous stasis, drug-related akathisia, and anxiety. gRLS might also heighten the risk of some pregnancy complications, such as preeclampsia and preterm labor.

Treatment strategies for gRLS typically prioritize non-pharmacological interventions, including lifestyle modifications, such as avoiding triggers like caffeine, alcohol, and tobacco. Relaxation techniques help as well, such as yoga, massage, and regular exercise. Iron supplementation can also help maintain serum ferritin levels above 75 µg/L. In cases where non-pharmacological measures prove insufficient, low-dose pramipexole during pregnancy or gabapentin postpartum may be cautiously considered.

Despite gRLS normally resolving postpartum, some cases can persist or worsen. Understanding and effectively managing gRLS during pregnancy can improve maternal comfort and well-being while mitigating associated pregnancy-related risks.

Understanding the Intersection of Gender Dysphoria, Tourette’s, and Helicopter Parenting

A third PCC case study highlights the complex interplay between gender dysphoria, Tourette syndrome (TS), and a “helicopter parent.”

This particular study breaks down the case of a 19-year-old transgender woman with TS and attention-deficit/hyperactivity disorder (ADHD) who attempted suicide by overdose. She identified helicopter parenting — characterized by overinvolvement and control — as a major stressor, contributing to her distress and suicidal ideation.

The patient, referred to as Ms. A, struggled with her gender identity and felt stifled by parental expectations. Despite family support, Ms. A perceived a lack of autonomy in decision-making, which aggravated her feelings of frustration and dysphoria.

Ms. A’s case underscores the challenges faced by individuals navigating complex intersections of gender identity and neurodevelopmental disorders. Multiple studies suggest a potential link between TS and gender dysphoria. Some researchers suggest this could be influenced by prenatal androgen exposure.

Ms. A’s treatment involved a multidisciplinary approach, addressing TS symptoms pharmacologically, providing therapy for gender dysphoria, and facilitating access to support groups. The treatment plan highlighted the importance of psychoeducation and family counseling to create a supportive environment.

This case study underscores the importance of tailored interventions for the unique challenges faced by individuals with intersecting identities and neurodevelopmental conditions. These cases demand collaborative, patient-centered approaches in mental health care.

Further Reading

Early Improvements Predict Treatment Response in Alzheimer’s

3 Key Updates in Parkinson’s Disease

The Treatment of Tourette’s Syndrome: Multimodal, Developmental Intervention