Giuseppe Plazzi

Pediatric narcolepsy: Clinical features and burden of illness

Giuseppe Plazzi, MD, PhD (Italy)
Chair, Child Neurology, University of Modena and Reggio Emilia
Director of the Sleep Disorders, Narcolepsy and CNS Hypersomnias Center,
IRCCS – Institute of Neurological Sciences of Bologna, Italy

Keynote Summary: Narcolepsy is a chronic and lifelong rare neurologic disorder with onset commonly occurring in childhood or adolescence. The primary symptom is excessive sleepiness, which is accompanied by cataplexy, hallucinations, disrupted nocturnal sleep, and sleep paralysis in order of frequency of occurrence.

Compared to adults, narcolepsy symptoms often initially manifest differently in children and adolescents. This may pose diagnostic dilemmas. Insufficient sleep and circadian rhythm disorders presenting with excessive daytime sleepiness are also common in adolescents, potentially further confounding narcolepsy diagnosis. Children with narcolepsy often display irritability, hyperactivity, and poor attention, which may be misdiagnosed and misinterpreted as behavioral disorders or neurocognitive sequelae of other conditions. Pediatric cataplexy may include an unusual facial expression – cataplectic facies – or choreic-like movements, which often remit and are not observed in adults.

Pediatric narcolepsy presents distinct challenges in diagnosis and management, and it is associated with a considerable burden of illness, which is exacerbated by delays in symptom recognition, diagnosis, and intervention.

In particular, pediatric narcolepsy is associated with comorbidities including rapid weight gain, accelerated or precocious puberty, attention deficit hyperactivity disorder, increased risk for deficits in social functioning, depression, anxiety, and psychosis.

School performances are also typically impaired, often require special education services, and are especially worsened by the diagnostic delay, by the difficulties to promptly access to proper therapies, claiming for fostering awareness, timely and accurate diagnosis, rapid and appropriate treatment of this disorder.

Biosketch: Giuseppe Plazzi, MD and PhD, is a Professor of Neurology at the University of Modena and Reggio Emilia and director of the Sleep Disorders, Narcolepsy and CNS Hypersomnias Center of the IRCCS – Institute of Neurological Sciences of Bologna. He serves as president of the Italian Sleep Society (AIMS), vice-president of the EU-Narcolepsy Network (EU-NN), board member of the European Sleep Research Society (ESRS) and co-chair of the rare neurological diseases panel of the European Academy of Neurology (EAN). He published more than 370 papers (h-index 63, citations > 15.500) in peer-reviewed journals, mostly in the field of sleep disorders. He serves on the editorial board of scientific journals in the field of sleep medicine and biology research, and, as sleep medicine expert, he has several collaborations with scientific and educational media.