ASPHYXIA AND DEVELOPMENTAL OUTCOME IN HIGH RISK INFANTS

Asphyxia is a risk factor that is very often related to neuro-developmental issues in high risk infants and equally affects preterm and term infants, however its outcome on the developed brain differs from the outcome on the preterm brain.In preterm infants, asphyxia usually exerts a hemorrhagic or ischaemic event and periventricular leukomalacia.In term infants, asphyxia leads to cerebral edema and atrophy of the brain, which may later lead to hypoxic ischaemic encephalopathy (HIE).The number of term infants with HIE who have survived is lower than those of preterm infants, while the percentage of term infants with HIE who have neuro-developmental issues is higher. Preemies face more problems in their motor development as a result of the brain damage, while term infants suffer from encephalopathy and their cognitive abilities are more affected.We have conducted a study about the effects that asphyxia has on the developmental outcomes in high risk infants. In our study, we did a longitudinal developmental follow-up of 30 high risk infants and an evaluation of their developmental outcome using the Griffiths Mental Development Scales, from the 4th month of life until the end of the 36th month. First, we found that high risk infants had a much lower developmental outcome than the control group during the trial. Finally, we found that asphyxia makes a difference in the developmental outcome of preterm infants without asphyxia who have a very low birth weight, the preterm infants with asphyxia, and the term infants with HIE-II

High-risk newborns and pervasive developmental disorders

Aim of the paper: Analysis of developmental abilities in high-risk infants, with an emphasis on risk, early screening and early diagnosis of disorders of the autistic spectrum (ASD). Materials and methods: Between January 2013 and December 2015, a total number of 612 high - risk infants, were followed as outpatients at  the Clinic for neurology and development. We used Griffiths developmental scales for assessment of developmental abilities and M-CHAT (Modified Checklist for Autism in Toddlers) when there was a suspicion for ASD. Results: In 4,4% of the children disorder in the field of socialization, social development and speech, as well as symptoms of ASD were found. The median age of the infants during examination was 23 months. Each child had a normal neurological status. Using the developmental tests, Griffiths developmental scales, the examined children, showed normal development of gross motor skill and normal development of fine motor skills. The developmental coefficient in the area of social development was 64%, and 44% in the area of speech. Four children showed clear signs of sensory integration dysfunction. 3,3% of children with symptoms of ASD were conceived with IVF, were twins and were preemies. Conclusion: The goal of developmental follow-up and developmental diagnostics should be establishing the risk and symptoms of ASD in high - risk children, especially in premature infants and twins.Цел на трудот: Ðнализа на развојните ÑпоÑобноÑти кај виÑокоризичните новородени Ñо акцент на ризикот, раниот Ñкрининг и раната дијагноÑтика на нарушувањата од аутиÑтичниот Ñпектар (ASD). Материјал и методи:  Ð’о периодот  Ð¾Ð´ јануари 2013 година до декември 2015 година, 612 виÑокоризич- ни деца поминале низ Ðевролошко-развојната амбуланта при УниверзитетÑката клиника за детÑки болеÑти во Скопје. Извршена е проценка на развојните ÑпоÑобноÑти на Ñекое дете Ñо примена на раз- војниот теÑÑ‚, Griffiths developmental scales како и примена на M-CHAT ( Modified Checklist for Autism in Toddlers) во Ñкринирањето на деца на возраÑÑ‚ од 16 до 30 меÑеци при Ñомение за аутиÑтичен Ñпектар на нарушувања. Резултати: Кај 4,4% од децата конÑтатирани Ñе отÑтапувања во Ñоцијалниот развој и говорот, одÑтапувања во полето на Ñоцијализација и Ñимптоми за ASD. Децата Ñе на Ñредна возраÑÑ‚ од 23 меÑеци. Сите деца Ñе Ñо уреден невролошки ÑтатуÑ. Ðа развојните теÑтови, Griffiths developmental scales, покажуваат уреден развој на крупна моторика и уреден развој на фина моторика. Развојниот коефициент во облаÑта на Ñоцијалниот развој изнеÑува  64%, а во облаÑта на говорот 44%. Четири деца покажуваат јаÑни знаци за диÑфункција на Ñензорната интеграција. 3,3% од децата  Ñо елементи на ASD Ñе од вештачко оплодување -IVF, близначка бременоÑÑ‚ и предвремено породување. Заклучок: Целта на развојното Ñледење и развојната дијагноÑтика треба да биде утврдување на ризикот, како и навремено откривање на Ñимптомите за ASD кај виÑоко ризичните деца, оÑобено кај недоноÑените и близнаците

SPECIAL NEEDS CHILDREN: FROM EXCLUSION TO INCLUSION

When a child is born with some type of handicap or acquires one during childhood, many parents face various difficulties and seek answers to countless questions. “What is happening to my child?”;“Why is this happening to him/her and to our family?;“How can I find the best treatment for him/her?”;“How should I behave towards my child?”;“Will my child be able to attend school, have social and emotional relations, will he/she be able to work?”;“Will my child reach old age?”; “What will happen to him/her when we’re gone?” Many parents are burdened with their situation and may experience difficulties handling their child’s handicap in an appropriate way. However, many of them will soon become experts for their children’s condition. When working with special needs children, it is very important to understand that every child and every family is unique. As teachers, psychotherapists, doctors, nurses, etc., we must learn and understand everything we can about the child, and his/her handicap in order to better support, teach, treat and to make efforts for them. Parents will continue to love and accept their children just the way they are, which, of course, is the most important thing for them.Keywords:  children, handicap, family

Severe Encephalitis in Infant with COVID-19: A Case Report

BACKGROUND: Encephalitis is a serious condition that contains neurological dysfunction cause by inflammation of the brain tissue. Etiological factors for the occurrence of this condition include infectious and non-infectious causes. CASE REPORT: We are presented 9-month-old infant referred to our clinic in convulsive status, fever, and disturbed consciousness. From anamnestic information, the infant has been febrile for 2 days with profuse vomiting initiating just before admission at the clinic. At the moment of admission in the clinic, the infant looked intoxicated with generalized tonic-clonic seizures, with shortness of breath and fever with a weakened reaction to painful stimuli. It was admitted in the Isolation Unit by the protocol of the clinic. Laboratory investigations were done. Due to the persistence of convulsive status, a computed tomography scan of the brain was performed with the finding of enlargement of the lateral ventricles, with intraventricular masses and pronounced internal hydrocephalus. The results of severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) from the infant were positive as well as the grandmother. The infant was intubated immediately and put on mechanical ventilation SIPPV. CONCLUSION: Our case report could suggest that SARS-CoV-2 infection may cause severe clinical symptoms, neurological manifestations, and encephalitis in infants

MEDICAL CANNABIS IN PEDIATRICS (MYTH OR REAL POSSIBILITY)

The public interest in cannabis for medical use is acknowledged, and anecdotal reports of effectiveness in individual patients are compelling. Our objective isto make overview of the current scientific papers for medicinal cannabis use in paediatric population. Literature review was conducted utilizing, PubMed, Medline, and Google Scholar. Cannabis based product have promising potential for add-on treatment of certain conditions in paediatrics. Well-designed Randomized Clinical Trials (RCTs) with sufficient number of patients are imperative to demonstrate benefit of therapeutic use. In paediatrics, the greatest evidence for medicinal cannabis useis for seizure disorders. RCTs have demonstrated the safety and efficacy of oral Cannabidiol (CBD) for treatment of seizures associated with Lennox-Gastaut or Dravet syndrome.Keywords:  cannabinoids, medical marijuana, pediatrics

Surgical Treatment of a Seven-Year-Old Boy with Refractory Epilepsy Due to Focal Cortical Dysplasia, Case Report

The most common developmental malformation encountered in patients with refractory epilepsy is Focal Cortical Dysplasia (FCD). Malformations of cortical development, in particular FCDs are identified in 20–25% of patients with focal epilepsy, and approximately 76% of these patients are supposed to suffer from drug-resistant epilepsy. A promising therapy option for these patients could be surgical treatment. We present a seven-year-old child with drug-resistant epilepsy, who underwent surgical treatment that had an excellent outcome. Throughout the period of five years, the index patient was admitted several times to the Department of Neurology at the University Pediatrics Clinic-Skopje. He was initially admitted at the age of two years, because of his first episode of febrile seizures accompanied by diarrhea. In the following period, during the hospitalization, febrile seizures also developed. CT findings showed a slight degree of front parietal cortical reduction, while the first MRI showed a slight dysmorphia at the frontal gyri, yet no focal abnormalities. The initial EEG revealed a bihemispheric epileptogenic focus. The reason for constant treatment alterations was drug-resistance. Although some encephalographic stabilization had been achieved, a full clinical response had never been obtained for a prolonged period. At the age of seven years, a pediatric epilepsy surgical team at the University School of Medicine–ACIBADEM, Turkey, evaluated the patient. The conclusion of the team was that the child is a candidate for surgical treatment of epilepsy. The child underwent surgery at the age of eight years and has been seizure free since.Keywords: Focal Cortical Dysplasia, Epilepsy, Surgery

LAMA2–ASSOCIATED CONGENITAL MUSCULAR DYSTROPHY: CASE REPORT

Introduction: LAMA2 Associated Muscular Dystrophy (LAMA2-RD) is one of the most common forms of congenital muscular dystrophy worldwide. Mutations in the LAMA2 gene affect the production of the α2 subunit of lamin-211 (merosine) and result in partial or complete deficiency of lamin-211. Inheritance is usually autosomal recessive.Case report: We present a patient who is dual heterozygous for two pathogenic variants in the LAMA2 gene, as demonstrated by targeted resection of 4800 clinically significant genes. c.4474dupT, p. (Tyr1492LeufsTer11), inherited from the mother and c.7732C> T, p. (Arg2578Ter), inherited from the father. With this genotype the patient is confirmed autosomal recessive disease, LAMA2-RD. Variant c.4474dupT, p. (Tyr1492LeufsTer11), in exon 31 of the LAMA2 gene, is a change that has not been reported in the literature.Conclusion: Genetic confirmation of the diagnosis is important for genetic counseling, prenatal diagnosis for each subsequent pregnancy in the family because the risk of an affected child is 25%.Keywords: LAMA2 associated muscular dystrophy, genetic testing of clinically relevant genes, genetic counseling

ВажноÑÑ‚ на 6 минутниот теÑÑ‚ на одење во дијагноÑтика на ретка метаболна миопатија – приказ на Ñлучај на карнитин палмитоил транÑфераза 2 дефицит

Diagnosis of rare inherited neuromuscular disorders is sometimes delayed due to variations in time of onset, different clinical appearance and limited diagnostic possibilities. The management of patients  starts  with neurological examination, followed by  specific laboratory tests  and neurophysiologic assessment. In the  era of molecular medicine, molecular biology tools are useful in avoiding some of the invasive investigations such as muscle biopsy. We present a boy with a mild form of metabolic myopathy due to carnitine  palmitoyltransferase  2 deficiency diagnosed upon timed functional assessment. A child had delayed developmental milestones, associated with fatigue and muscle pain during exercising and longer walks. There were no episodes of myoglobinuiria during exercise or during febrile illnesses. Neurological examination reveled proximal muscle weakness. Serum creatine kinase (CK) and serum lactate were above normal limits. Serum acylcarnitine profile was normal. Short timed functional tests such as 10 meters  walk/run test  showed normal results. Nord Star Ambulatory Assessment showed difficulties in balance and jumping. Diagnosis of myopathy was suspected after performance of 6-minute walk test, when the passed distance was 327 meters with slowing and fatigue. EMG and echocardiography were within normal range. Diagnosis was established by sequencing  of the CPT II gene which revealed   c.338C>T (p.Ser113Leu) mutation in homozygous form as characteristic CPT II deficiency profile.Дијагнозата на ретките невромуÑкулни заболувања е понекогаш пролонгирана заради различното вре- ме на почеток на Ñимптомите, различната клиничка Ñлика и ограничените дијагноÑтички можноÑти. Обработката на пациентот започнува Ñо невролошки преглед, по што Ñледат Ñпецифични лаборато- риÑки теÑтови и неврофизиолошки иÑпитувања. Во ера на молекуларната медицина, генетÑката анали- за овозможува да Ñе избегнат некои од инвазивните иÑпитувања, како на пример муÑкулната биопÑија. Прикажуваме момче Ñо блага форма на метаболичка миопатија Ñо карнитин палмитоил транÑфераза 2 (CPT II) дефицит, која е дијагноÑтицирана врз оÑнова на временÑка функционална проценка. Детето имало забавен моторен развој, Ñо замор и муÑкулна болка во тек на вежбање или подолго одење. Ðема- ло епизоди на миоглобинурија во тек на вежбање или во тек на фебрилни болеÑти. Ðевролошкиот пре- глед покажа прокÑимална муÑкулна ÑлабоÑÑ‚. СерумÑката креатин киназа и ÑерумÑкото ниво на лакта- ти беа над нормалните граници. СерумÑкиот профил на ацил карнитини беше нормален. Кратките функционални теÑтови како 10 метри одење/трчање покажаа уредни резултати. Nord Star Ambulatory Assessment  – теÑтирањето покажа потешкотии во рамнотежата и при Ñкокање. Сомнение за вродена миопатија Ñе поÑтави по изведување на подолготраен функционален теÑÑ‚ – 6-минутниот теÑÑ‚ на одење кога поминатата  Ð´Ð¸Ñтанца беше 327 метри Ñо уÑпорување и замор. Електроневромиографијата и ехо- кардиографијата кај детето покажаа нормални наоди. Дијагнозата беше потврдена Ñо Ñеквенциони- рање на CPT II генот Ñо региÑтрирање на c.338C>T (p.Ser113Leu) мутација  Ð²Ð¾ хомозиготна форма која е карактериÑтична за CPT II дефицит

Компарација на шеÑÑ‚ минутниот теÑÑ‚ на одење кај деца Ñо различни невромуÑкулни болеÑти и здрави деца на возраÑÑ‚ од 5 до 14 години

The aim of this study was to determinate the importance of 6MWT in children diagnosed with neuromuscular diseases. We evaluated the distances walked and the level of fatigue manifested. The data were correlated with the distances walked by healthy children at the same age. Materials and methods: Eleven children diagnosed with neuromuscular diseases such as Duchenne muscular dystrophy   (6), congenital myopathy  (2), myasthenia gravis (2)  and SMA type 3 (1)  performed the6-minute walk test (6ÐœWT) according to ATS statement: guidelines for the six-minute walk test. Weakness and fatigue were registered in the examined group. Collected data were correlated with the results obtained from a group of healthy children at the same age and gender. Percent-predicted distance on the 6MWT was computed from normative values to determine weakness, excluding the influence of age and height of the children on 6MWT results. Fatigue was determined by the percentage of decrement in distance walked from the first to sixth minute. Results: Fatigue was registered in 52% of all children with neuromuscular diseases. Student's t-test showed a statistically significant difference between the average distance walked from 1-6  minute by children with neuromuscular diseases compared to average distance walked by healthy children at the same age and the result was t = 6.2381 P < 0.0001 with 95% CI and DF10. Pearson's correlation coefficients showed a strong negative linear correlation (r= -0.913897 p <0.01) between fatigue and percent- predicted 6MWT distance in children with neuromuscular diseases. Conclusion: The 6-minute walk test has proven diagnostic value in newly evaluated patients suspected of having a neuromuscular disease. It has a monitoring value for follow-up of disease progression and the effectiveness of treatment.Целта на трудот е да Ñе утврди значењето на 6-минутниот теÑÑ‚ на одење кај деца Ñо невромуÑкулни бо- леÑти. Во Ñтудијата беа евалуирани поминатите диÑтанци, како и Ñтепенот на замор кај иÑпитаниците. Резултатите од теÑтирањето Ñе корелирани Ñо диÑтанците поминати од групата здрави деца на иÑта возраÑÑ‚. Материјал и методи: ЕдинаеÑет деца Ñо дијагноÑтички потврдени невромуÑкулни болеÑти, муÑкулна диÑтрофија на Duchenne (6), конгенитална миопатија (2), мијаÑтенија Ð³Ñ€Ð°Ð²Ð¸Ñ (2) и Ñпинална муÑкулна атрофија (1), го изведоа 6-минутниот теÑÑ‚ на одење (6-minute walk test, 6ÐœWT), почитувајќи го протоколот Ñпоред ÐТС правилата (ATS statement: guidelines for the six-minute walk test). СлабоÑÑ‚ и замор беа забележани кај изведување на 6-минутниот теÑÑ‚ на одење од Ñтрана на иÑпитуваната група. Резултатите беа Ñпоредени Ñо поÑтигањата и резултатите од овој теÑÑ‚ кај 11 здрави деца на иÑта возраÑÑ‚ и пол Ñо иÑпитаниците. За да Ñе процени Ñтепенот на ÑлабоÑÑ‚ беше одредуван процент од предиктивната вредноÑÑ‚ на поминатата диÑтанца за 6 минути Ñпоред нормативни Ñкали, Ñо цел да биде иÑклучено влијанието на возраÑта и виÑината на децата врз вредноÑтите нa 6MWT. Заморот беше изразен како процент на намалување на поминатата диÑтанца за време од 1 минута мерено од првата кон шеÑтата минута. Резултати: Замор бешe региÑтриран кај 52% од Ñите теÑтирани деца Ñо не- вромуÑкулни болеÑти. Student-овиот t-теÑÑ‚ покажа поÑтоење на ÑтатиÑтички значајна разлика помеѓу Ñредната вредноÑÑ‚ од поминатите диÑтанци од првата до шеÑтата минута кај децата Ñо невромуÑкулни болеÑти Ñпоредено Ñо Ñредната вредноÑÑ‚ од поминатите диÑтанци кај здравите  Ð²Ñ€Ñници (t = 6,2381, P< 0,0001 Ñо интервал на доверба  95% и Ñтепен на Ñлобода  10). Pearson–овите теÑтови на корелација покажаа Ñилна негативна линеарна корелација (r= -0, 913897, p <0, 01) помеѓу заморот  Ð¸ процент од предвидената диÑтанца при 6-минутниот теÑÑ‚ на одење кај децата Ñо невромуÑкулни болеÑти. Заклу- чок: ШеÑÑ‚ минутниот теÑÑ‚ на одење има потврдена дијагноÑтичка важноÑÑ‚ кај новооткриени пациенти под Ñомнение за невромуÑкулна болеÑÑ‚. ИÑто така, тој е значаен метод за Ñледење на Ñтепенот на прогреÑија на болеÑта и ефективноÑта на Ñпроведената терапија

TIME ASSESSMENT IN CLASSICAL VS DIGITAL IMPRESSIONS

Aim of the study is an ex-vivo time analysis comparing conventional and digital impression methods for prosthodontic restorations. Insights gleaned from ex-vivo experiments hold promise for enhancing existing practices. This primary experimental investigation will prioritize the consideration of both clinician and patient requirements when determining treatment modalities. Materials and Method: The study involved five stages: preparing an artificial arch, measuring time for gingival retraction with cords and paste, assessing time for conventional and digital impressions, and data analysis. A Frasaco maxillary model with 16 teeth was utilized, 14 prepared using cylindrical-conical burs. Gingival retraction cords and paste were applied, and impression times were recorded for both conventional and digital methods. Results and Discussions: Time analyses showed varying durations for gingival retraction techniques, with the paste method significantly faster than retraction cords. Digital impressions exhibited shorter scanning times compared to conventional methods, especially for fewer number of teeth. However, conventional two-step impressions took longer but provided better cervical area fidelity. This study highlighted the efficiency of digital scanning, offering shorter impression times and reduced patient discomfort. Research also emphasized the differences between retraction methods, with varied effects on periodontal tissues and impression quality. Comparison studies indicated benefits and challenges associated with different impression techniques. Conclusion: The findings underscored the need for practitioners to choose impression methods based on time efficiency and patient needs. Optical scanning proved quickest for fewer teeth, while retraction cord and paste methods require careful consideration. While the study didn’t explore gingival tissue effects, it highlighted crucial considerations for impression materials and chemical solutions. These insights offer practitioners guidance in selecting optimal techniques for effective and efficient dental procedures