Introduction

Restless legs syndrome, also known as Willis-EKBOM disease is a condition that causes uncomfortable sensations in your legs and an irresistible urge to move them. It can begin at any age and tends to get worse with age. It can affect sleep and interfere with daily activities.¹

Prevalence in children

The prevalence of RLS in children is generally in the range of 2.3% to 3.1% every year for children in the age group of 7 to 15 years.  However, a high proportion of children are reported to have RLS symptoms only once throughout their lives. This indicates that persistent RLS is relatively rare in children.

Understanding what RLS is in paediatric populations is important because it has implications for diagnosis and treatment. Some children may experience spontaneous remissions, meaning the symptoms can disappear for months or years before potentially reappearing. This emphasises the need for careful management and consideration of the duration of symptoms and treatments.

Causes and risk factors

• Genetic factors

Genetic predisposition plays a huge role in the development of RLS. Studies have found that BTBD9, MEIS1, MAP2K5/SKOR1, and TOX3 are some of the genes that make people more likely to get the condition. However, the exact mechanisms by which these genes contribute to RLS pathophysiology remain unclear. Research indicates that these genes may influence multiple traits, such as periodic limb movements (PLMSs), iron metabolism, and pain perception.²

• Iron deficiency

Genetic variants in BTBD9 and MEIS1 are associated with iron metabolism. Iron is an important nutrient that our body needs in order to function properly; one of its main roles being facilitating the transport of oxygen to all the organs. RLS patients have been found to have certain versions (also known as alleles) of these genes which result in a decreased amount of iron stored in the body, which can worsen the symptoms.²

• Neurological factors

Dopamine is a hormone that affects our emotions and behaviour, allowing us to feel sensations of pleasure. In RLS patients, this hormone can be affected. Genetic studies have shown that the genes implicated in this condition, such as BTBD9, affect the dopamine levels in RLS patients. These genes are widely expressed in the central nervous system, and this shows their significant role in affecting neurological functions related to RLS patients.²

• Other medical conditions associated with RLS

Restless legs syndrome is often associated with various medical conditions, including pregnancy, iron deficiency, and chronic kidney failure. Additionally, certain medications, such as antidepressants, dopamine drugs, and neuroleptics, may worsen symptoms. Paediatric cases are often misdiagnosed as “growing pains” and may be worsened by conditions like iron deficiency.²

Symptoms and diagnosis

Common symptoms in children include:

• Uncomfortable sensations in the legs: Children with RLS tend to describe their symptoms using terms like “hurts” or “pain” which can lead to a common misdiagnosis of growing pains. These sensations are typically described as uncomfortable feelings deep inside the limbs³ 
• Urge to move the legs: An overwhelming urge to move the legs to relieve discomfort is a distinctive symptom of RLS. Children might use their own words, such as “want to move, need to move, or got to kick” to express this urge

Diagnostic criteria for paediatric RLS

Diagnosis of paediatric RLS includes understanding the child-specific descriptions of RLS symptoms and ruling out other conditions like ADHD, sore leg muscles, and dermatitis.³

Diagnostic tools and tests:

• Medical history: Obtaining a detailed medical history is important to understand the symptoms and their impact on the child’s life
• Physical examination: A thorough physical examination helps eliminate other conditions that might resemble (mimic) RLS
• Blood tests: Blood tests, particularly for iron levels, are always conducted, as iron deficiency is linked to the condition
• Sleep studies: Sleep studies might be used to observe limb movements during sleep (PLMS), which are common in RLS patients and can support the diagnosis

Impact on daily life

Sleep disturbances

Sleep disturbances are commonly seen as one of the symptoms of individuals with Restless Legs Syndrome. They often struggle to fall asleep and stay awake, which can disrupt their daytime schedule. Objective measurements using polysomnography have documented that it takes longer for patients to fall asleep, a shorter total sleep duration, an increase in disturbed, fragmented sleep patterns, and reductions in both non-rapid eye (NREM) and rapid eye movement (REM) sleep. These sleep disruptions significantly contribute to the impaired quality of life experienced by RLS patients.³

Daytime fatigue and behavioural issues

Patients frequently experience daytime fatigue due to the way RLS affects sleep. This continuous fatigue can impair physical and cognitive functioning during the day. It is also associated with behavioural issues, as a lack of good rest has a negative impact on mood and overall daytime behaviour.³

Emotional and psychological effects

In addition to physical health, this condition also has significant emotional and psychological effects. The stress of managing a chronic condition, coupled with persistent fatigue and sleep disturbances, can worsen feelings of frustration and depression.³

Treatment options

Lifestyle changes and home remedies

• Sleep hygiene practices: Having a regular sleep schedule and maintaining a comfortable sleep are recommended. Good sleep hygiene practices can help reduce the severity of symptoms
• Regular physical activity: Engaging in regular physical activity is beneficial for managing symptoms. Exercise can improve overall health and well-being, which in turn can help reduce the occurrence of episodes
• Dietary adjustments: Incorporating iron-rich foods into the diet is suggested, especially if iron deficiency is a contributing factor. A balanced diet with a proper amount of iron can support better management of symptoms⁴ 

Medical treatments

• Iron supplements

Taking iron supplements is often the first treatment considered, especially in cases where iron deficiency is identified. Oral iron supplements can help increase iron levels and reduce symptoms. In some cases, intravenous iron (iron administered through a vein) may be used, when oral supplements are not effective.⁴

• Medications

Dopamine agonist: Medications that act on dopaminergic receptors (the areas of the body that interact with the hormone dopamine), such as dopamine agonists, are normally used to treat the condition. These medications can help reduce sensory and motor symptoms.

Anticonvulsants: Anticonvulsant medications are another option for managing RLS. They can help stabilise nerve activity and provide relief from symptoms.⁴

Management and support

Monitoring symptoms

Parents and caregivers play a crucial role in monitoring the symptoms of RLS in children. It is important for them to be observant about the signs and symptoms, as early detection and intervention can significantly improve the child’s quality of life.⁵

Providing emotional support

Emotional support from parents and caregivers is essential for children suffering from this condition. Having a supportive environment helps children cope with the challenges of RLS, including dealing with the discomfort and potential impact on sleep and daily activities.⁵

Educational support for children with RLS

Educational support involves creating awareness among teachers and school staff about RLS so they can accommodate the child’s needs. This might include allowing for movement breaks during class or providing a quiet and comfortable space for the child to relax if symptoms become overwhelming during the school day. Such support ensures that the child’s academic performance is not affected by their condition.⁵

Support groups and resources for families

Families can benefit a lot from connecting with support groups and resources dedicated to RLS. These groups provide valuable information, coping strategies, and a sense of community for families dealing with similar challenges.⁵

Current research and future directions

The current research focuses on several aspects:

• Epidemiology: Large-scale studies are being conducted to find the risk factors associated with RLS in paediatric populations. This includes understanding how factors like genetics, iron deficiency, and chronic dysfunction contribute to the onset and progression of the condition⁶
• Pathophysiology: Recent developments have shown that genetic markers, hormone dysfunction, and iron deficiency have major roles in the pathogenesis of RLS⁷
• Clinical Features and Diagnosis: Research is being done to refine diagnostic criteria,  such as defining what is Periodic Limb Movement Disorder (PLMD). This involves identifying key characteristics and features, such as periodic leg movements during sleep and responses to dopaminergic therapy⁷

Emerging treatments and therapies

Pharmacological treatments

• Alpha-2 Delta Ligands: Gabapentin and pregabalin are increasingly being used as primary treatments, as they are effective in controlling symptoms
• Iron supplementation: For children with evidence of reduced iron stores, iron supplementation has shown to be beneficial for RLS symptoms
• Dopamine Agonists: Pramipexole and ropinirole are commonly prescribed, though caution is advised due to the risk of augmentation⁷

Non-pharmacological measures

Non-pharmacological interventions, such as massages, warm baths, and cognitive behavioural therapy (CBT), are also being explored for their potential to alleviate RLS symptoms without the side effects associated with medications.⁷

Summary

Restless Legs Syndrome (RLS) causes uncomfortable leg sensations and the urge to move. Genetic factors, iron deficiency, and dopamine dysregulation contribute to its onset. The early diagnosis is crucial for effective management through lifestyle adjustments, iron supplements, and medications. Education for healthcare providers and caregivers is important for timely intervention and improved outcomes. Continued research is necessary to refine diagnostic methods, explore new treatments, and increase awareness.