Dystonic Dyskinetic Encephalopaty Disorder Etiological & prognostic aspects and comorbidities

Dystonic Dyskinetic Encephalopaty DisorderEtiological & prognostic aspects and comorbiditiesBy Vera El-Najjar, general medicine student, 6th year, Coordinator: Dr. Racos Elizabeta

Infantile distonic dyskinetic encephalopathy is a rare and severe affection manifesting mainly in the inability to properly organize and execute voluntary movements, coordinate automatic movements and keep posture, all of which causing a major motor disability. This neuropsychiatric disorder has a stable, non progressive character, due to some insults of the immature brain. DefinitionThe first signs are observed in the first 3 months of the infants life, progressing until the age of 2 years, when the clinical picture is complete. After three months, the child`s manipulation moment can conclude hypertonic states on the hypotonic background. The first signs of extra-pyramidal attain are represented by:Excessive opening of infants mouth;tongue protrusion;Persistence of tonic cervical reflex;Persistence of the plantar grasping reflex;Persistence of the Galant reflex over the physiological inhibition term of these reflexesInfant will have delays in the neuromotoric aquisitions , cephalic extremity control disorders and trunk and limbs area disorders.

Signs & SymptomsThe clinical picture is represented by the presence of involuntary movements (athetosis) and hypertonic or hypotonic tonus (dystonia).The domination of the involuntary movements or the dystonic movements in the clinical picture allows the differentiation of two forms:

dyskinetic form and dystonic form.The clinical pictureInvoluntary movements: these are bizare, purpousless movements which may be uncontrolable.the involuntary motion is increased by excitement, any form of insecurity, and the effort to make a voluntary movement.Postural control: the involuntary movements or dystonic spasm may throw the child off balance.Voluntary movements are possible but there may be an initial delay before the movement is begun. They can be totaly or partially disrupted by the involuntary movements

Main motor characteristics

Environment of originThe study revealed that 44% of the patients had an urban backround, while 56% had a rural background.

Gender64% of the patients were males while only 36% females

Pathological PregnancyWe discovered that 52% of the diagnosed infants were born after a non-pathological pregnancy, while 48% after a pathological one.

Apgar score24% of the patients had an unknown apgar score, 52% scoring less than 7.

TORCH64% of the patients had a negative TORCH, which makes Torch a non concludent factor in the etiology of this disorder.Specialized literature incriminates hyperbilirubinemia by RH incompatibility causing nuclear icterus with degenerative changes in the basal ganglia.We were able to document that only 16% of the patients in our study suffered from prolonged icterus.Psychical affectsThe study revealed that 80% of the pacients suffered from psyhical deficit, from light to severe, which most probably was caused by the inability of integration and normal functioning in the society.

Epilepsy52% of the pacients suffered from epilepsy.It is important to mention that in this form of infantile encephalopaty, epilepsy is well controled by medication.

Atipical AutismThe most severe form of psychical disorder is Autism. Our study revealed that only 28% of our pacients suffered from atipical Autism.Age at first hospitalizationDue to the importace of an early diagnosis, we wanted to conclude the regular age at the first hospitalization.20% of the pacients were only three months old at the first hospitalisation, while another 20% of them were older than 4 years at the time the diagnosis was confirmed.

Early Prognostic detection and treatment are of great significance for a successful evolution of the patient. mastering walking till the age of six is an important factor in a favorable prognostic.The motor disability is a disorder that will automatically entail and affect the patient`s psychical condition. Therefore, a professional family- and patient psychotherapy is of equal significance as the treatment of the motor disorder, and should be started as early as possible in order to achieve the most satisfying long term evolution of the patients. Conclusion