HOW TO IDENTIFY AND DISTINGUISH THE NUMEROUS DISORDERS OF NEURODEVELOPMENT?
S. Vendemmia – Aversa, I. Pezone – Aversa, D. Perri – Aversa, G. Parisi – Vasto, M. Vendemmia – Napoli
INTRODUCTION
These neurodevelopmental disorders can easily be confused if there is no deep knowledge and experience in their evaluation. Therefore it is important to analyze them individually in order to evaluate the peculiar characteristics of each and any similarities with autism.
AUTISM SPECTRUM DISORDER
These are heterogeneous neurodevelopmental disorders characterized by the persistent deficit of communication and social interaction, with particular behavioral patterns Affected subjects often have co-morbidity. neurological, psychiatric and medical. In Italy currently one child in 77, between 7 and 9 years, has a disorder of the autistic spectrum. Men are more affected, 4.4 times more than women.
Clinical symptomatology is very heterogeneous and variable and we can basically summarize it in persistent deficit of communication and social interaction, patterns of behavior,interests or repetitive activities, fixed, restricted, without flexibility.
They can also, present hyper or hypo-reactivity as a response to sensory stimuli, or unusual interests towards environmental aspects. In the very small child you can notice elusive look, little interest in attempts at involvement, missed or limited research into relationships and play with other children, delay or lack of development of language and alternative ways to be understood, as through gestures or facial expressions. Those who can develop a certain communicative language tend to repeat some expressions and have difficulty maintaining a conversation with another subject. Especially they show little ability to adapt to another.
ASPERGER’S SYNDROME
This syndrome is basically due to a neurodevelopmental disorder that limits the possibility of socializing and communicating, but unlike autism, it does not involves intellectual or linguistic disabilities. Asperger subjects usually exhibit repetitive behaviors and more rarely, poor motor coordination. It usually manifests during the first 2-3 years of life, at school they present difficulties in socializing or dialoguing. Currently Asperger’s syndrome is considered among the disorders of the autistic spectrum. It is important to know that an Asperger, despite having reduced ability to socialize and communicate, may also not present additional intellectual and linguistic disabilities. However the most peculiar symptoms of the syndrome concern language,communication,socialization,daily interests and motor skills.
They can speak with a monotonous and pedantic tone of voice, and often fail to distinguish between idioms and ironic phrases. From a motor point of view they resemble autistics, presenting themselves with poorly coordinated movements.
They generally have a normal IQ, more rarely they may seem “genial”, showing exceptional skills and qualities in the field of music, computer science and of mathematics.
SAVANT SYNDROME
This is a rare situation, characterized by mental/cognitive impairment, sometimes severe, but exceptionally some subjects have exceptional abilities, above average,sometimes so talented to reach remarkable levels. The Savant subjects are defined “Islands of Genius” and have been described three different types:
- SPLINTER SAVANT or SPLINTER SKILLS, subjects with specific skills;
- TALENTED SAVANT, real talents in specific sectors: musical, artistic, etc;
- PRODIGIOUS SAVANT, with exceptional talent and skills that make them extraordinary wonders in art, music, calculus, mechanics and spatial skills, mathematics.
Such syndrome may manifest at birth due to congenital neurodevelopmental abnormalities, but also be acquired as a result of brain injury or other (fronto-temporal dementia). In about 50% of cases SAVANT syndrome is associated with autism. Hardly the opposite occurs because only 1/10 with autism seems to present Savant-like symptoms. Very few autistic subjects can develop and manifest “Savant ability”. In fact in most cases it is High Functioning Autism or Asperger Syndrome.
TOURETTE’S SYNDROME
A quick mention of this neuropsychiatric disease, known as the “hundred tic disease”, because patients manifest uncontrolled movements accompanied by involuntary vocalizations and sounds. It affects about one percent of the population, predominantly in adolescence and youth. Generally, the symptomatology may start at 6-7 years of age, may reduce or amplified in subsequent years.
Tics have various types: shout, cough, blow, smell, blink, grunt, turn the neck, gnash the teeth, jump, kick, produce obscene and vulgar gestures (copropraxia), imitate the gestures of others (ecopraxia). In the most severe forms, similar inattention and restlessness are evident to ADHD, obsessive thoughts that determine repetitive and irrepressible behaviours, typical of obsessive-compulsive disorder. Coprolalia may be present (issue of blasphemies and swear words). The disease appears to be attributable to the malfunction of the basal ganglia, in particular to disturbances of the extrapyramidal system that presides over automatic and nonvoluntary movements probably the triggering cause of the syndrome is attributable to infectious diseases that acting on a genetically predisposed terrain and on a developing nervous system can circumvent appropriate control mechanisms.
CONCLUSIONS
In the light of the above, it is clear that these diseases often have similar symptoms, and therefore their differentiation and clinical and therapeutic framework can be difficult. Certainly the experience of a pool of specialists will be useful for a correct diagnosis.
BIBLIOGRAPHY
- S. Vendemmia, M. Vendemmia. AUTISMO – Nuove Strategie di Diagnosi e Cura. Hygieia Press 2019, Quartu Sant’Elena, Cagliari
- E. Burgio. Environment and fetal programming: the origins of some current pandemics. J. Ped. Neon. Individ, Med, 2015
- Happè F. et alii: Time to give up on a single explanation for autism. Nat. Neurosc. 2006; 9 (10): 1218-20