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Monday, May 18, 2015

Early diagnosis and personalised treatments are the main challenges faced by the scientific community in the field of childhood health disorders

Experts in childhood hypotonia and sleep disorders presented their research at a seminar organised by the IBI within the framework of the BIOCAPS programme

The scientific community in the field of paediatrics is still faced with highly complex challenges related to sleep disorders that appear during childhood and often become chronic during adulthood. Early diagnosis and personalised treatments based on the causes of these conditions are key to the management of disorders such as hypotonia, or loss of muscle tone, and the sleep disorders commonly associated with psychiatric or neurological conditions.

Over two days, the Biomedical Research Institute (IBI) brought together experts from these paediatric fields at the Hospital Xeral de Vigo as part of the eleventh scientific seminar organised within the framework of the BIOCAPS programme.

Childhood hypotonia, which involves decreased muscle tone, was the subject of the first day of this seminar. According to Cristina Melcón, a neuropaediatrics specialist at the Hospital Xeral Cíes de Vigo, genetic and metabolic factors account for up to 50% of all cases of this disorder in children.

This condition can lead to problems with body movement and posture control, which in turn, depending on the severity, can lead to speaking, swallowing and learning difficulties, as well as problems with socialising and overall functioning. Moreover, hypotonia has a a central origin, in other words its cause can be found in the central nervous system (brain and spinal cord), in six out of every ten cases. In the remaining 40% of cases, the problem resides in the peripheral nervous system or in the muscle itself.

In Dr. Melcón's opinion, significant progress has been made over the past few years in the diagnosis of hypotonia as a result of the development of cytogenetic and molecular biology techniques and improved neuroimaging, biochemical and immunohistochemical methods. “The future will bring further improvements in diagnosis, especially at the earliest possible moment, and even prenatally in some cases, as well as the development of gene therapy and replacement treatments,” she explains.  

As far as treatments are concerned, Manuela Barrio, a specialist in rehabilitation medicine at the Complexo Hospitalario Universitario de Vigo (CHUVI), presented her experience with rehabilitation- and orthopaedics-based therapies. Based on the need to design treatments in the individual context of each patient, and taking into account the causes of their hypotonic disorder, any physiotherapy technique that helps to stimulate motor function and makes the acquisition of developmental milestones easier is considered to be appropriate. With regard to orthopaedics, the expert notes that it is essential to ensure correct positioning of the patients as soon as possible in order to prevent deformities, especially of the spine.

“Rehabilitation treatments currently tend to concentrate on task-based motor training, in other words ensuring that the degree of mobility and muscle tone in each patient is used to achieve a specific goal by practising day-to-day activities,” explains Barrio.

Sleep disorders

On the second day, the seminar was dedicated exclusively to sleep disorders in infants, children and adolescents. The speakers provided the most up-to-date information concerning apnoeas (subjects stop breathing for periods of 15 to 20 seconds while asleep), parasomnias (including sleep walking and night terrors), restless leg syndrome (an uncontrollable urge to move while asleep) and sleep problems in attention deficit hyperactivity disorder (a disease affecting around 7% of Spanish children).

Emilio Rodríguez, an expert in sleep medicine at the Hospital Xeral de Vigo, notes that restless leg syndrome (RLS), which was the subject of his talk, is a complex disorder that is not yet fully understood, but for which “it has been shown that iron deficiency and a family history of the disease are the most common risk factors in children and adolescents”.

This syndrome, which affects between 2% and 6% of child and adolescent population, is currently incurable.  “A child with RLS is almost certainly going to be an adult with RLS”, states Rodríguez. As such, treatment is only symptomatic and must be individualised in all cases. “A series of conservative measures, such as going to bed and getting up at the same time, avoiding large meals or intensive exercise shortly before going to bed, and minimising stimulatory activities, such as watching TV or playing video games, before going to bed, can be taken”, he explains. In addition, he recommends to closely monitor caffeine, chocolate, antihistamine and dopamine receptor antagonist drug (dopamine is one of the most common neurotransmitters) consumption.

In the case of attention deficit hyperactivity disorder (ADHD), the specialist in psychiatry Belén Martínez discussed the multiple challenges faced by the scientific community as regards the most commonly diagnosed behavioural disorder in children. First of all there is a lack of information that allows the problem to be adequately measured, thus meaning that information concerning the age, gender and types of treatment used need to be collected. Similarly, studies are required to clarify the origin of this disease and analyse the effect of psychological and pharmacological treatments on its progress. “And, clearly, we have to consider the development and evaluation of new treatments for ADHD that are more effective over time, or even have curative effects, as we currently rely on symptomatic treatment to which not all patients respond completely”, states Martínez.

With regard to sleep disorders suffered by children with ADHD, Dr. Martínez notes that is still not known whether they are directly caused by the disease or whether they are due to other associated aspects, such as mood or anxiety and drugs. The strategy for treating these disorders will depend on an individual analysis of the patient but, in general, “we can include a programme of psychoeducational and sleep hygiene measures and adjust the drug dose if the patient is receiving this type of treatment”, explains Dr. Martínez.