PRZEGLĄD NAJCZĘŚCIEJ WYSTĘPUJĄCYCH ZABURZEŃ MEDYCZNYCH LEŻĄCYCH U PODŁOŻA AUTYZMU

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1 PRZEGLĄD NAJCZĘŚCIEJ WYSTĘPUJĄCYCH ZABURZEŃ MEDYCZNYCH LEŻĄCYCH U PODŁOŻA AUTYZMU MAGDALENA CUBALA- KUCHARSKA lek. med.

2 THE MEDICAL ASPECTS OF AUTISM MAGDALENA CUBALA- KUCHARSKA M.D.

3 CEL PREZENTACJI CELEM NINIEJSZEJ PREZENTACJI JEST ZWRÓCENIE UWAGI NA ZABURZENIA MEDYCZNE/BIOCHEMICZNE, KTÓRE TRUDNO WYKRYĆ/ ŁATWO PRZEOCZYĆ, A KTÓRE MAJĄ WPŁYW NA NASILENIE OBJAWÓW AUTYZMU. ETIOLOGIA TYCH ZABURZEŃ JEST NIEWYJAŚNIONA

4 AIMS OF THE PRESENTATION TO PAY AN ATTENTION INTO MEDICAL/ BIOCHEMICAL CONDITIONS EASY TO OVERLOOK/DIFFICULT TO DETECT, WHICH CAN WORSEN THE SYMPTOMS OF AUTISM AETHIOLOGY OF THESE CONDITION IS UNCLEAR

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6 I KNOW NOTHING EXCEPT MY IGNORANCE Socrates WIEM, ŻE NIC NIE WIEM

7 FACTS AND STATISTICS 1 IN 150 BIRTHS 1 TO 1.5 MILION AMERICANS AFFECTED FASTEST GROWING DEVELOPMENTAL DISABILITY % ANNUAL GROWTH $90 BILION ANNUAL COST 90% OF COSTS ARE IN ADULT SERVICES COST OF LIFELONG CARE CAN BE REDUCED BY 2/3 WITH EARLY DIAGNOSIS AND INTERVENTION 2003, 2006 Copyright Autism Society of America. All rights reserved. Based on prevalence statistics from the Centers for Disease Control and Prevention (2007).Based

8 AUTISM - STATISTICS ASA calculates that the annual cost of autism will increase to $ billion in 10 years. February 2003

9 AUTISM IS A DESCRIPTIVE DIAGNOSIS OF SYMPTOMS NOT A MEDICAL DIAGNOSIS TO DIAGNOZA OPISUJĄCA SYMPTOMY, NIE DIAGNOZA MEDYCZNA (PRZYCZYNOWA)

10 Autism is a brain development disorder that is characterized by impaired social interaction and communication, and restricted and repetitive behavior, all starting before a child is three years old. This set of signs distinguishes autism from milder autism spectrum disorders (ASD) such as pervasive developmental disorder not otherwise specified (PDD- NOS).[2]

11 Most researchers and clinicians did not look for medical answers to autism because they believed it was a disorder that was medically untreatable.

12 Without the technology to understand these children, pediatricians and pediatric psychologists accepted the concepts of poor parenting, childhood psychosis/schizophrenia and classified autism as a psychological and/or developmental disorder. Treatment was typically delivered by psychologists and psychiatrists.

13 Blame it on Mom The term refrigerator mother was coined around 1950 as a label for mothers of children diagnosed with autism. These mothers were often blamed for their children's atypical behaviors, which included rigid rituals, speech difficulty, and selfisolation.

14 Blame it on Mom/zwal winę na mamę That's the story that went around, but here's the real lowdown, Put the blame on mame boys, put the blame on mame Mame gave a chump such and ice cold no-for seven days they shoveled snow. So you can, Put the blame on mame boys

15 THE GREATEST DISCOVERY OF MY GENERATION IS THAT A HUMAN BEING CAN ALTER HIS LIFE BY ALTERING HIS ATTITUDES OF MIND NAJWIĘKSZYM ODKRYCIEM MOJEJ GENERACJI JEST TO, ŻE ISTOTA LUDZKA MOZE ZMIENIĆ SWOJE ŻYCIE ZMIENIAJĄC POSTAWĘ SWOJEGO UMYSŁU William James ( )

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18 ANDY WAKEFIELD

19 WAKEFIELD AJ, Ashwood P, Limb K, Anthony A. Thoughtful House Center for Children, Austin, Texas 78746, USA. 1: Eur J Gastroenterol Hepatol Aug;17(8): Links THE SIGNIFICANCE OF ILEO-COLONIC LYMPHOID NODULAR HYPERPLASIA IN CHILDREN WITH AUTISTIC SPECTRUM DISORDER. BACKGROUND: Intestinal mucosal pathology, characterized by ileo-colonic lymphoid nodular hyperplasia (LNH) and mild acute and chronic inflammation of the colorectum, small bowel and stomach, has been reported in children with autistic spectrum disorder (ASD). AIM: To assess ileo-colonic LNH in ASD and control children and to test the hypothesis that there is an association between ileo-colonic LNH and ASD in children. PATIENTS AND METHODS: One hundred and forty-eight consecutive children with ASD (median age 6 years; range 2-16; 127 male) with gastrointestinal symptoms were investigated by ileo-colonoscopy. Macroscopic and histological features were scored and compared with 30 developmentally normal (non-inflammatory bowel disease, non-coeliac disease) controls (median age 7 years; range 1-11; 25 male) showing mild nonspecific colitis in 16 cases (13 male) and normal colonic histology in 14 cases (12 male). Seventy-four ASD children and 23 controls also underwent upper gastrointestinal endoscopy. The influence on ileal LNH of dietary restriction, age at colonoscopy, and co-existent LNH elsewhere in the intestine, was examined. RESULTS: The prevalence of LNH was significantly greater in ASD children compared with controls in the ileum (129/144 (90%) vs. 8/27 (30%), P < ) and colon (88/148 (59%) vs. 7/30 (23%), P = ), whether or not controls had co-existent colonic inflammation. The severity of ileal LNH was significantly greater in ASD children compared with controls, with moderate to severe ileal LNH present in 98 of 144 (68%) ASD children versus 4 of 27 (15%) controls (P < ). Severe ileal LNH was associated with co-existent colonic LNH in ASD children (P = 0.01). The presence and severity of ileal LNH was not influenced by either diet or age at colonoscopy (P = 0.2). Isolated ileal LNH without evidence of pathology elsewhere in the intestine was a rare event, occurring in less than 3% of children overall. On histopathological examination, hyperplastic lymphoid follicles are significantly more prevalent in the ileum of ASD children (84/138; 61%) compared with controls (2/23; 9%, P = ). CONCLUSION: Ileo-colonic LNH is a characteristic pathological finding in children with ASD and gastrointestinal symptoms, and is associated with mucosal inflammation. Differences in age at colonoscopy and diet do not account for these changes. The data support the hypothesis that LNH is a significant pathological finding in ASD children.

20 AUTISTIC ENTEROCOLITIS Most of the children were reported to have swelling of the lymphoid tissue lining the intestines, particularly near where the small and large intestines meet, and inflammation of the large intestine, associated with constipation, diarrhea and, in some cases, pain. In some affected children, impaired cellular immunity to common recall antigens, with low numbers of circulating white blood cells were reported. A specific measles protein signal is claimed to have been detected in inflamed lymphoid tissue. In some cases, loss of speech and language, bowel disturbances, self-injury, and a self-limited diet, associated with cravings for particular foods. Allergies, food intolerances are also reported in some children.

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22 Autistic enterocolitis; is it a histopathological entity? MacDonald TT, Domizio P. Institute of Cell and Molecular Science and Health Sciences Education, Bart's To review the literature on the histopathological diagnosis of the condition termed 'autistic enterocolitis'. METHODS AND RESULTS: We have reviewed all published works where mucosal biopsy specimens from autistic children have been examined histopathologically. Abstracts were excluded. Our review of the published works, nearly all from a single centre, identifies major inconsistencies between studies, lack of appropriate controls and misinterpretation of normal findings as pathology. Ileal lymphoid hyperplasia may be more prevalent in children with regressive autism but is also seen in children with food allergies and severe constipation, the latter being an extremely common finding in autistic children. CONCLUSION: The histopathological diagnosis of autistic enterocolitis should be treated with caution until a proper study with appropriate methodology and controls is undertaken.

23 THE TRUTH IS RARELY PURE AND NEVER SIMPLE. PRAWDA RZADKO JEST CZYSTA I NIGDY NIE JEST PROSTA Oscar Wilde ( ), The Importance of Being Earnest, 1895, Act I

24 J Dev Behav Pediatr Apr;27(2 Suppl):S Links Frequency of gastrointestinal symptoms in children with autistic spectrum disorders and association with family history of autoimmune disease. Valicenti-McDermott M, McVicar K, Rapin I, Wershil BK, Cohen H, Shinnar S., Children's Evaluation and cross-sectional study that compares lifetime prevalence of gastrointestinal (GI) symptoms in children with autistic spectrum disorders (ASDs) and children with typical development and with other developmental disabilities (DDs) and examines the association of GI symptoms with a family history of autoimmune disease. performed in 50 children with ASD and 2 control groups matched for age, sex, anethnicity-50 with typical development and 50 with other DDs. selectivity (adjusted OR, 4.1; 95% CI, ) were associated with GI symptoms. Children with ASD have a higher rate of GI symptoms than children with either typical development or other DDs.

25 Pediatric inflammatory bowel disease: clinical and therapeutic aspects. Kugathasan S. Epidemiologic data suggest that the incidences of pediatric ulcerative colitis and Crohn disease continue to evolve with geographic variations. One study suggests that children with autism have a unique inflammatory bowel disorder that is associated with gastrointestinal symptoms. The appropriate use of new diagnostic tests and novel treatments for inflammatory bowel disease (IBD) needs to be clarified in the pediatric population. Because of concerns regarding sensitivity and specificity, serologic markers measuring anti-saccharomyces cerevisiae antibodies and perinuclear antineutrophil cytoplasmic antibodies cannot yet replace conventional diagnostic testing for screening or diagnosis of pediatric IBD.

26 Każda prawda przechodzi przez trzy etapy: najpierw jest wyśmiewana, potem zaprzeczana, a na końcu uważana za oczywistą All truth passes through three stages. First, it is ridiculed. Second, it is violently opposed. Third, it is accepted as being self-evident. Arthur Schopenhauer ( )

27 MEDICAL CONDITIONS RELATED TO AUTISM: ZABURZENIA MEDYCZNE ZWIĄZANE Z AUTYZMEM GI TRACT DISORDERS, INCLUDING DYSBIOSIS, INFLAMMATION, PANCREATIC EXOCRINE INSUFFICIENCY, COELIAC DISEASE, MALDIGESTION, MALABSORPTION, FOOD INTOLERANCE, FOOD ALLERGIES CHOROBY PRZEWODU POKARMOWEGO: DYSBIOZA, STANY ZAPALNE, ZABURZENIA TRAWIENIA I WCHŁANIANIA, NIETOLERANCJE I ALERGIE POKARMOWE

28 BOWEL SYPMTOMS OF CHILDREN WITH AUTISM ARE SIMILAR to NON-SPECIFIC INFLAMMATORY BOWEL ZABURZENIA JELITOWE U DZIECI Z AUTYZMEM MAJĄ WSZELKIE CECHY NIESPECYFICZNEGO ZAPALENIA JELIT

29 DYSBIOZA DYSBIOSIS OPPORTUNISTIC BACTERIA LIKE CLOSTRIDIUM, CAMPHYLOBACTER PATHOGENIC BACTERIA YEASTS PROTOZOA (GIARDIA, BLASTOCYSTIS, DIENTOAMEBA, CRYPTOSPORIDIUM ) WORMS BAKTERIE OPORTUNISTYCZNIE (CLOSTRIDIUM, CAMPHYLOBACTER) BAKTERIE PATOGENNE (KLEBSIELLA, CITROBACTER, PSEUDOMONAS) DROŻDŻE PIERWOTNIAKI PASOŻYTY

30 BLASTOCYSTIS HOMINIS

31 KAMIL HYPOXIA AT BIRTH REGRESSED IN AGE OF 18 MONTH, MOTHER ASSOCIATES THE REGRESS WITH ACT-HIB COLICS IN CHILDHOOD MEDICAL HISTORY OF RECCURENT INFECTIONS OF RESPIRATORY TRACT GI INFECTION CONSTIPATIONS NIEDOTLENIENIE OKOŁOPORODOWE REGRES 18 MŻ, MAMA WIĄŻE TO Z PODANIEM ACT-HIB W NIEMOWLĘCTWIE KOLKI CZĘSTE INFEKCJE GDO LECZONE ANTYBIOTYKAMI ZAPARCIA KRĘCZ SZYI

32 KAMIL NONVERBAL NOT POTTY TRAINED LACK OF EYE-CONTACT NOT UNDERSTANDING SIMPLE COMMANDS CRYING/SCREAMING POOR SLEEP PATTERNS STIMULATIONS, REPETITIVE BEHAVIOR NIEWERBALNY BRAK TRENINGU CZYSTOŚCI BRAK KONTAKTU WZROKOWEGO BRAK ROZUMIENIA POLECEŃ PŁACZ/KRZYK ZABURZONY SEN STYMULACJE, RYTUALISTYCZNE ZACHOWANIE

33 KAMIL KLEBSIELLA AND CANDIDA IN A STOOL GAMMAGLOBULINES<, ALBUMINES > LIMFOCYTOSIS WITH MONOCYTOSIS ANEMIA URIC ACID LOW (2,0 N 2,5) STREPTOCOCCUS VIRIDANS THROAT KLEBSIELLA I CANDIDA W KALE GAMMAGLOBULINY<, ALBUMINY > OBNIŻONY POZIOM KWASU MOCZOWEGO LIMFOCYTOZA Z MONOCYTOZĄ ANEMIA OBNIŻONY POZIOM KWASU MOCZOWEGO

34 KAMIL

35 KAMIL

36 AUTISM: disorders of main biochemical pathways of the METHYLATION TRANSSULPHURATION STRES OKSYDACYJNY LACTIC ACIDOSIS IMPAIRED NEUROTRANSMITER FUNCTION ZABURZENIA METYLACJI TRANSSULFURACJI STRES OKSYDACYJNY KWASICA MLECZANOWA ZABURZENIA METABOLIZMU NEUROPRZEKAŹNIKÓW

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40 KAMIL: LECZENIE TREATMENT GF CF DIET ANTIFUNGALS AND NON- ABSORBED ANTIBIOTICS CUSTOM-MADE VITAMINS BASED ON INDIVIDUAL NEED ALBENDAZOL DIETA BEZGLUTENOWA I BEZMLECZNA LEKI PRZECIWGRZYBICZE I ANTYBIOTYKI NIEWCHŁANIALNE Z JELITA ALBENDAZOL WITAMINY

41 KAMIL: LECZENIE TREATMENT IMMUNE STIMULATION STYMULACJA UKŁADU IMMUNOLOGICZNEO MINERAŁY MB12 AND FOLATES PROBIOTICS OMEGA3/6 MB12 I FOLIANY PROBIOTYKI OMEGA3/6

42 Zgodnie z prośbą piszę kilka słów o Kamilku. Rok temu kiedy po raz pierwszy zgłosiliśmy się do Pani Doktór Kamil miał 3 lata i 2 miesiące i nie mówił w ogóle, nie nawiązywał kontaktu wzrokowego, nie wykonywał poleceń, nie rozumiał poleceń, nie naśladował, nie pokazywał palcem, nie potrafił pokazać części ciała, nie reagował na imię, trudno było w ogóle z nim nawiązać kontakt, nie zgłaszał potrzeb fizjologicznych w związku z czym chodził w pampersie, nie potrafił się. Został zdiagnozowany jako dziecko autystyczne określane jako silnie zaburzone. Dziś po roku suplementacji poprzedzonych licznymi badaniami wraca do mnie moje dziecko. Dziś mój syn pięknie reaguje na imię, nawiązuje kontakt wzrokowy, pokazuje pieknie palcem, potrafi mówić, buduje nawet pierwsze proste zdania, potrafi się komunikować z nami, zgłasza swoje potrzeby fizjologiczne ( chodzi bez pampersa) pięknie naśladuje, pokazuje i nazywa wszystkie części ciała, zna cały alfabet, zna cyfry, liczy do 30.

43 Potrafi napisać swoje imie, MAMA, TATA,BABA. Po za tym pieknie sie bawi. Pojawiają sie zabawy tematyczne. Bawi sie w lekarza, bada swoje misie, babcię, mamę, z klocków robi sałatkę owocową. Podaje mi żółty klocek i mówi: to banan, czerwony to truskawka, niebieski to jagody a zielony to winogrono a biały to cukier. Bawi sie pociągami które jeżdżą, przedostają sie przez zaspy, rozmawiają ze sobą te pocigi. Po za tym edukacyjnie Kamil już prawie nie odbiega od swoich zdrowych rówieśników. Jak dalej tak wszystko bedzie szło w takim tempie jak teraz do za rok lub dwa będę miała całkiem ZDROWE dziecko.i niech nikt mi nie mówi że nie ma sensu leczyć dziecka autystycznego od strony medycznej, bo moje dziecko pokazuje że jest sens i to duży. P.S. Bardzo bardzo bardzo DZIĘKUJĘ Pani Doktor za to że oddaje mi Pani moje dziecko. Rodzi sie na nowomam syna który zaczyna mówić, buduje nawet proste zdania, w prosty sposób komunikuje sie z nami

44 NIE LECZYMY AUTYZMU, ALE LECZYMY CHOROBY, NA KTÓRE CHORUJĄ DZIECI Z AUTYZMEM I W TEN SPOSÓB POPRAWIAMY ICH WE DO NOT TREAT AUTISM, BUT WE CAN TREAT DISEASES CHILDREN WITH AUTISM SUFFER FROM AND IMPROVE THEIR FUNCTIONING

45 ZABURZONA DETOKSYFIKACJA PESTICIDES HEAVY METALS XENOTOXINS OTHERS PESTYCYDY METALE CIĘŻKIE KSENOBIOTYKI INNE

46 PROBLEMY Z DETOKSYFIKACJĄ ENDOTOKSYN AMMONIA ARABINITOL PROPIONIC ACID OTHERS AMONIAK ARABINITOL KWAS PROPIONOWY INNE

47 AMONIAK: OCENA LABORATORYJNA AMMONIA: LABORATORY EVALUTATION Plasma ammonia level No other laboratory test can substitute for this measurement, nor does any other test indicate need for it. TEST MUST BE DONE ON INSTANT OTHERWISE RESULTS MIGHT BE FALSELY NEGATIVE POZIOM MIERZYMY W SUROWICY NIE MA INNEGO BADANIA KTÓRE MOŻE ZASTĄPIĆ TEN POMIAR TEST MUSI BYĆ WYKONANY NATYCHMIAST PO POBRANIU, INACZEJ WYNIK JEST FAŁSZYWIE NEGATYWNY

48 KUBA 4 years HEAVILY AUTISTIC STIMULATIONS AGGRESSION POOR SLEEP PATTERNS LOT OF SENSORISMS, DO NOT UNDERSTAND SIMPLE COMMANDS VERY AGITATED TOE WALKING NO POTTY-TRAINING CIĘŻKI AUTYZM STYMULACJE AGRESJA PROBLEMY ZE SNEM NIEWERBALNY NIE ROZUMIE POLECEŃ DUŻO SENSORYZMÓW BARDZO POBUDZONY CHODZI NA PALCACH BRAK TRENINGU CZYSTOŚCI

49 KUBA 4 years MULTIPLE INFECTIONS OF RESPIRATORY TRACT, PNEUMONIA INFEKCJE GDO, WŁĄCZNIE Z ZAPALENIEM PŁUC MANY COURSES OF ANTIBIOTICS WIELOKROTNIE LECZONY ANTYBIOTYKAMI CONSTIPATION/ ALTERING WITH DIARRHOEA ZAPARCIA NA ZMIANĘ Z BIEGUNKĄ

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51 KUBA

52 KUBA AMMONIA 218 umol/l

53 HYPERAMMONEMIA AN ELEVATER BLOOD AMMONIA LEVEL, although it may be secondary, MUST NEVER BE IGNORED Moreover, since the normal ureagenic capacity of the liver is so great in relation to physiologic load, such a finding points directly to an impairment of the urea cycle in the liver. KARL S.ROTH

54 Cohn RM, Roth KS. Hyperammonemia, bane of the brain. Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA, USA. Ammonia, normally produced from catabolism of amino acids, is a deadly neurotoxin. As such, the concentration of free ammonia in the blood is very tightly regulated and is exceeded by two orders of magnitude by its physiologic derivative, urea. The normal capacity for urea production far exceeds the rate of free ammonia production by protein catabolism under normal circumstances, such that any increase in free blood ammonia concentration is a reflection of either biochemical or pharmacologic impairment of urea cycle function or fairly extensive hepatic damage.

55 Cohn RM, Roth KS. Hyperammonemia, bane of the brain. Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA, USA. Clinical signs of hyperammonemia occur at concentrations > 60 micromol/l.

56 CLINICAL SIGNS OF HYPERAMMONEMIA. include anorexia, irritability, lethargy, vomiting, somnolence, disorientation, asterixis, cerebral edema, coma, and death; appearance of these findings is generally proportional to free ammonia concentration, is progressive, and is independent of the primary etiology. Causes of hyperammonemia include genetic defects in the urea cycle ("primary") or organic acidemias ("secondary"), as well as genetic or acquired disorders resulting in significant hepatic dysfunction. Thus, because of the neurotoxic implications of hyperammonemia and the typical absence of other specific laboratory abnormalities, appearance of the clinical signs should trigger an emergent search for elevated blood ammonia concentration.

57 NEUROLOGICAL SYMPTOMS OF HYPERAMMONEMIA POOR COORDINATION DYSDIACHOKINESIA HYPO OR HYPERTONIA ATAXIA TREMOR SEIZURES LETHARGY DECORTICATE OR DECEREBRATE POSTURING ZABURZENIA KOORDYNACJI DYSDIACHOKINEZA HYPO LUB HYPERTONIA ATAKSJA TREMOR DRGAWKI LETARG

58 Hyperammonemia is a medical emergency because of the neurotoxicity, which is a direct effect of ammonia on the CNS. Initial management should consist of protein intake cessation with the provision of as many nonprotein calories as is practical via intravenous routes, oral routes, or both (if possible). More specific therapy depends on the etiology of the hyperammonemia. Hemodialysis, intravenous sodium phenylacetate/ benzoate (Ammonul), or both may be needed.

59 HYPERAMMONEMIA UREA CYCLE DISORDERS GENETIC IMPAIRED LIVER DETOXIFIXATION OVERGROWTH OF DYSBIOTIC BACTERIA IN THE GUT GENETYCZNE CHOROBY CYKLU MOCZNIKA USZKODZONA DETOKSYFIKACJA WĄTROBOWA PRZEROST PATOGENNYCH BAKTERII W JELICIE

60 ODWAGA TO SZTUKA BYCIA JEDYNĄ OSOBĄ KTÓRA WIE, ŻE JESTEŚ ŚMIERTELNIE PRZERAŻONY Courage is the art of being the only one who knows you're scared to death. Harold Wilson ( )

61 KUBA HIGH AMMONIA LEVELS WYSOKIE POZIOMY AMONIAKU NO ABNORMALITIES IN LIVER ENZYMES BRAK ODCHYLEŃ W PRÓBACH WĄTROBOWYCH

62 KUBA HYPOGAMMA- GLOBULINEMIA INDICATING IMPAIRED IMMUNE FUNCTION HYPOGAMMA- GLOBULINEMIA- OBNIŻENIE ODPORNOŚCI CANDIDA W STOLCU CANDIDA IN STOOL

63 KUBA I RECOMMENDED INVESTIGATIONS OF UREA CYCLE IN CLINICAL HOSPITAL ZALECIŁAM BADANIA CYKLU MOCZNIKA W SZPITALU KLINICZNYM

64 KUBA L-ARGININE TREATMENT OF DYSBIOSIS WĘGIEL AKTYWNY LAKTULOZE SUPPLEMENTATION WITH VITAMINS CHELATION WITH TTFD CREAM L-ARGININE LECZENIE DYSBIOZY WĘGIEL AKTYWNY LAKTULOZA SUPLEMENTACJA WITAMINOWA CHELATACJĘ TTFD

65 Dziecko bardzo dobrze zareagowało. poziom amoniaku po 3 tygodniach stosowania L ARGININE był 18,7.Oprócz tego dziecko się uspokoiło już nie biega tylko albo bawi się chodzi spokojnie, rozumie polecenia,, zaczyna nasladowac. Nauczyl sie sam zakladac spodnie. Takiego wyniku jeszcze nie mieliśmy. Jak wykryła Pani amoniak to był na poziomie 128,3. Pozdrawiam Mama Kuby

66 KUBA

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68 DYSFUNKCJA UKŁADU IMMUNOLOGICZNEGO IMMUNE SYSTEM DYSFUNCTION Z AUTYZMEM ZWIĄZANE JEST WIELE ZABURZEŃ SYSTEMU IMMUNOLOGICZNEGO JAK NIEPROPORCJONALNE PODGRUPY LIMFOCYTÓW, CHRONICZNE STANY ZAPALNE immune system disorders, disproportionate subpopulations of lymphocytes, chronic inflammation

69 Cohly HH, Panja A. Department of Biology, Jackson State University, Mississippi 39217, USA. Two main immune dysfunctions in autism are immune regulation involving pro-inflammatory cytokines and autoimmunity. Mercury and an infectious agent like the measles virus are currently two main candidate environmental triggers for immune dysfunction in autism. The cell-mediated immunity is impaired as evidenced by low numbers of CD4 cells and a concomitant T-cell polarity with an imbalance of Th1/Th2 subsets toward Th2.

70 Zh Nevrol Psikhiatr Im S S Korsakova. 2000;100(3):50-2. Links [Nerve growth factor auto-antibodies in children with various forms of mental dysontogenesis and in schizophrenia high risk group] Kozlovskaia GV, Kliushnik TP, Goriunova AV, Turkova IL, Kalinina MA, Sergienko NS. The level of autoantibodies (AAb) to nerve growth factor was evaluated in blood serum of 163 children with different forms of mental dysontogenesis of endogenic, residual-organic, psychogenic and deprivative origin. Significant elevation of the level of AAb was found in all forms of psychic dysontogenesis. The most significant elevation of the level of AAb (p < 0.01), as compared with the controls (45 children), was characteristic for endogenic forms of dysontogenesis (schizophrenia, early children's autism, schizotypic diathesis). The level of AAb was also found as an indicator of the acuteness of the pathologic state. Besides, its elevation was observed 1-2 weeks prior to the onset of the clinical exacerbation. Elevation of AAb level was also found in psychic dysontogenesis of residual-organic nature (children with perinatal encephalopathy), but it was not so significant as compared with the controls (p < 0.05%). The analysis in the age dynamics of children from this group revealed, that AAb level may serve as some prognostic index of the severity of psychic dysontogenesis. The level of AAb differs some states in schizotypic diathesis and deprivative dysontogenesis, which are clinically quite similar. The method for the estimation of serum AAb level may be proposed as screening in prophylactic medical examination of children from the first year of life under conditions of pediatric outpatient service for identification of risk-groups by psychic dysontogenesis to perform early special psychoprophylaxis.

71 Cohly HH, Panja A. Department of Biology, Jackson State University, Mississippi 39217, USA. Impaired humoral immunity on the other hand is evidenced by decreased IgA causing poor gut protection. Studies showing elevated brain specific antibodies in autism support an autoimmune mechanism. Viruses may initiate the process but the subsequent activation of cytokines is the damaging factor associated with autism. Virus specific antibodies associated with measles virus have been demonstrated in autistic subjects.

72 Cohly HH, Panja A. Department of Biology, Jackson State University, Mississippi 39217, USA. Increase in Th2 may explain the increased autoimmunity, such as the findings of antibodies to MBP and neuronal axonal filaments in the brain. The possibility of its involvement in autism cannot be ruled out.

73 Serological association of measles virus and human herpesvirus-6 with brain autoantibodies in autism. Singh VK, Lin SX, Yang VC. Considering an autoimmunity and autism connection, brain autoantibodies to myelin basic protein (anti-mbp) and neuron-axon filament protein (anti-nafp) have been found in autistic children. In this current study, we examined associations between virus serology and autoantibody by simultaneous analysis of measles virus antibody (measles- IgG), human herpesvirus-6 antibody (HHV-6-IgG), anti-mbp, and anti-nafp. We found that measles-igg and HHV-6-IgG titers were moderately higher in autistic children but they did not significantly differ from normal controls. Moreover, we found that a vast majority of virus serology-positive autistic sera was also positive for brain autoantibody: (i) 90% of measles- IgG-positive autistic sera was also positive for anti-mbp; (ii) 73% of measles-igg-positive autistic sera was also positive for anti-nafp; (iii) 84% of HHV-6-IgGpositive autistic sera was also positive for anti-mbp; and (iv) 72% of HHV-6-IgG-positive autistic sera was also positive for anti-nafp. This study is the first to report an association between virus serology and brain autoantibody in autism; it supports the hypothesis that a virus-induced autoimmune response may play a causal role in autism. Copyright 1998 Academic Press.

74 JAKĄ ROLĘ ODGRYWAJĄ WIRUSY W PATOGENEZIE AUTYZMU? WHAT IS THE ROLE OF VIRUSES IN PATHOGENESIS OF AUTISM?

75 K. Congenital cytomegalovirus infection diagnosed by polymerase chain reaction with the use of preserved umbilical cord in sensorineural hearing loss children. Laryngoscope Nov;116(11): PMID: [PubMed - indexed for MEDLINE] 9: Related Articles, Links Katz SL. Hertz-Picciotto I, Croen LA, Hansen R, Jones CR, van de Water J, Pessah IN. The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism. Environ Health Perspect Jul;11 13: Related Articles, Links Afzal MA, Ozoemena LC, O'Hare A, Kidger KA, Bentley ML, Minor PD. Cohly HH, Panja A. Immunological findings in autism. Int Rev Neurobiol. 2005;71:

76 Libbey JE, Sweeten TL, McMahon WM, Fujinami RS. Department of Neurology, University of Utah, Salt Lake City, Utah , USA. Autistic disorder (autism) is a behaviorally defined developmental disorder with a wide range of behaviors. Although the etiology of autism is unknown, data suggest that autism results from multiple etiologies with both genetic and environmental contributions, which may explain the spectrum of behaviors seen in this disorder. One proposed etiology for autism is viral infection very early in development. The mechanism, by which viral infection may lead to autism, be it through direct infection of the central nervous system (CNS), through infection elsewhere in the body acting as a trigger for disease in the CNS, through alteration of the immune response of the mother or offspring, or through a combination of these, is not yet known.

77 WIRUSY VIRUSES W ETIOPATOGENEZIE AUTYZMU MOGĄ ODGRYWAĆ ROLĘ WIRUSY: M.IN WIRUSY CMV, EBV, HERPES, COXACKIE, WIRUSY ODRY, PARAGRYPY I INNE. VIRUSES MAY PLAY A MAJOR ROLE IN ETHIOPATOGENESIS OF AUTISM: CMV, EBV, HERPES VIRUSES AND OTHERS

78 LINK WIRUSY/METALE CIĘŻKIE VIRUSES/HEAVY METALS LINK WIRUSY MOGĄ ZABURZAĆ PRODUKCJĘ METALLOTHIONEIN VIRUSES MIGHT IMPAIRE METALLOTHIONEIN PRODUCTION

79 LINK WIRUSY/METALE CIĘŻKIE VIRUSES/HEAVY METALS LINK WIRUSY WIĄŻĄ METALE CIĘŻKIE DO DNA/ RNA GOSPODARZA VIRUSES MIGHT BIND HEAVY METALS TO HOSTS DNA/RNA

80 Human cytomegalovirus induced host cell enlargement is iron dependent William E Crowe1*, Lilia M Maglova1, Prem Ponka2, and John M Russell1 1 Biology, Syracuse University, Syracuse, New York, USA 2 Lady Davis Institute for Medical Research, Sir Mortimer B. Davis Jewish General Hospital, Montreal, Quebec, Canada; Physiology, McGill University, Montreal, Quebec, Canada * To whom correspondence should be addressed. wecrowe@syr.edu. A hallmark of human cytomegalovirus (HCMV) infection is the characteristic enlargement of the host cells (cytomegaly). Since iron (Fe) is required for cell growth and Fe chelators will inhibit viral replication, we investigated the effects of HCMV infection on Fe homeostasis in MRC-5 fibroblasts. Using the metallo-sensitive fluorophore calcein and the Fe chelator salicylaldehyde isonicotinoyl hydrazone (SIH), the labile iron pool (LIP) in mock-infected cells was determined to be 1.04±0.05 µm. Twenty-four hours post infection (h.p.i.), the size of the LIP was nearly doubled. Since cytomegaly occurs between 24 and 96 h.p.i., access to this larger LIP could be expected to facilitate enlargement to ~375% of the initial cell size. The ability of Fe chelation (SIH, 100 µm) to limit enlargement to ~180%, confirms that the LIP plays a major role in cytomegaly. The effect of SIH chelation on the mitochondrial membrane potential (M) and morphology was studied using the mitochondrial voltage-sensitive dye, JC-1. The mitochondria in mock-infected cells were heterogeneous with a broad distribution of M and thread-like. In contrast, the mitochondria of HCMV-infected cells had a more depolarized M distributed over a narrow range and were grainlike in appearance. However, the HCMV-induced alteration in M was not affected by SIH chelation. In conclusion, the development of cytomegaly is inhibited by Fe chelation and may be facilitated

81 KRZYSIO Zatrucie ciążowe, zatrzymanie akcji porodowej, urodzony w zamartwicy. Był w inkubatorze, leczony tlenem, wypisany po 3 dobach. Kolki jak był mały prawdopodobnie tak. Rozwijał się prawidłowo. W 11 miesiącu życia zaczął chodzić. Problem zaczął się gdy w wieku 1,8 miał biegunkę rotawirusową i trafił do szpitala zrobił się wówczas nadpobudliwy, rodzice utracili z nim kontakt. DO SZPITALA TRAFIŁ PO SZCZEPIONCE Rzadko choruje antybiotyk otrzymywał 4-5 x w życiu. Stolce 1 x dziennie normalna konsystencja. Jak był malutki miał wysypkę skórną raz, niezidentyfikowany powód ojciec dziecka zginął 2 lata temu

82 KRZYSIO

83 KRZYSIO- HERPES SIMPLEX IGG 4,84 (N 1,1)

84 KRZYSIO- VARICELLA ZOSTER +

85 KRZYSIO

86 Evidence for Mycoplasma ssp., Chlamydia pneunomiae, and human herpes virus-6 coinfections in the blood of patients with autistic spectrum disorders. We examined the blood of 48 patients from central and southern California diagnosed with autistic spectrum disorders (ASD) by using forensic polymerase chain reaction and found that a large subset (28/48 or 58.3%) of patients showed evidence of Mycoplasma spp. infections compared with two of 45 (4.7%) age-matched control subjects (odds ratio = 13.8, P < 0.001). Because ASD patients have a high prevalence of one or more Mycoplasma spp. and sometimes show evidence of infections with Chlamydia pneumoniae, we examined ASD patients for other infections. Also, the presence of one or more systemic infections may predispose ASD patients to other infections, so we examined the prevalence of C. pneumoniae (4/48 or 8.3% positive, odds ratio = 5.6, P < 0.01) and human herpes virus-6 (HHV-6, 14/48 or 29.2%, odds ratio = 4.5, P < 0.01) coinfections in ASD patients. We found that Mycoplasma-positive and -negative ASD patients had similar percentages of C. pneumoniae and HHV-6 infections, suggesting that such infections occur independently in ASD patients. Control subjects also had low rates of C. pneumoniae (1/48 or 2.1%) and HHV-6 (4/48 or 8.3%) infections, and there were no coinfections in control subjects. The results indicate that a large subset of ASD patients shows evidence of bacterial and/or viral infections (odds ratio = 16.5, P < 0.001). The significance of these infections in ASD is discussed in terms of appropriate treatment. (c) 2007 Wiley-Liss, Inc.

87 METALLOTHINEIN/HEAVY METALS Michalska AE, Choo KH. Targeting and germ-line transmission of a null mutation at the metallothionein I and II loci in mouse. Proc Natl Acad Sci U S A Sep 1;90(17): [PubMed] Masters BA, Kelly EJ, Quaife CJ, Brinster RL, Palmiter RD. Targeted disruption of metallothionein I and II genes increases sensitivity to cadmium. Proc Natl Acad Sci U S A Jan 18;91(2): [PubMed] Carter AD, Felber BK, Walling MJ, Jubier MF, Schmidt CJ, Hamer DH. Duplicated heavy metal control sequences of the mouse metallothionein-i gene. Proc Natl Acad Sci U S A Dec;81(23): [PubMed] Serfling E, Lübbe A, Dorsch-Häsler K, Schaffner W. Metaldependent SV40 viruses containing inducible enhancers from the upstream region of metallothionein genes. EMBO J Dec 30;4(13B): [PubMed] Stuart GW, Searle PF, Palmiter RD. Identification of multiple metal regulatory elements in mouse metallothionein-i promoter by assaying synthetic sequences. Nature. 317(6040): [PubMed] Westin G, Schaffner W. A zinc-responsive factor interacts with a metal-regulated enhancer element (MRE) of the mouse metallothionein-i gene. EMBO J Dec 1;7(12): [PubMed] Mueller PR, Salser SJ, Wold B. Constitutive and metal-inducible protein:dna interactions at the mouse metallothionein I promoter examined by in vivo and in vitro footprinting. Genes Dev Apr;2(4): [PubMed]

88 NALEŻĘ DO TYCH, KTÓRZY UWAŻAJĄ ŻE NAUKA JEST NIEZWYKLE PIĘKNA NAUKOWIEC W SWOIM LABORATORIOUM JEST NIE TYLKO TECHNIKIEM JEST TAKŻE DZIECKIEM PODZIWIAJĄCYM ZJAWISKO NATURALNE KTÓRE ZACHWYCA JE JAK BAJKA I am among those who think that science has great beauty. A scientist in his laboratory is not only a technician: he is also a child placed before natural phenomena which impress him like a fairy tale. Maria Skłodowska-Curie ( )

89 HENRI

90 HENRI URIC ACID IN BLOOD: 2 ( 3,5-7,0)

91 KWAS MOCZOWY URIC ACID LOW URIC ACID MIGHT BE A RISK FACTOR OF THE BRAIN DAMAGE OBNIŻONY KWAS MOCZOWY MOŻE BYĆ CZYNNIKIEM ZWIĘKSZAJĄCYM RYZYKO USZKODZENIA MÓZGU

92 Hello Magda This picture of Henri at his gym class says more than thousand words: Yes this child is recovering!!!!!!!!!!! Katia

93 Egypt J Immunol. 2006;13(1): LinksPossible immunological disorders in autism: concomitant autoimmunity and immune tolerance. Kawashti MI, Amin OR, Rowehy NG. Autism is a pervasive developmental disorder that affect children early in their life. Immunological disorders is one of several contributing factors that have been suggested to cause autism. Thirty autistic children aged 3-6 years and thirty nonautistic psychologically-free siblings were studied. Circulating IgA and IgG autoantibodies to casein and gluten dietary proteins were detected by enzymeimmunoassays (EIA). Circulating IgG antibodies to measles, mumps and rubella vaccine (M.M.R) and cytomeglovirus were investigated by EIA. Results revealed high seropositivity for autoantibodies to casein and gluten: 83.3% and 50% respectively in autistic children as compared to 10% and 6.7% positivity in the control group. Surprisingly, circulating anti-measles, anti-mumps and anti-rubella IgG were positive in only 50%, 73.3% and 53.3% respectively as compared to 100% positivity in the control group. Anti-CMV IgG was positive in 43.3% of the autistic children as compared to 7% in the control group. It is concluded that, autoimmune response to dietary proteins and deficient immune response to measles, mumps and rubella vaccine antigens might be associated with autism, as a leading cause or a resulting event. Further research is needed to confirm these findi

94 Formation of reactive nitrogen species at biologic heme centers: a potential mechanism of nitric oxide-dependent toxicity. Casella L, Monzani E, Roncone R, Nicolis S, Sala A, De Riso A The peroxidase-catalyzed nitration of tyrosine derivatives by nitrite and hydrogen peroxide has been studied in detail using the enzymes lactoperoxidase (LPO) from bovine milk and horseradish peroxidase (HRP). The results indicate the existence of two competing pathways, in which the nitrating species is either nitrogen dioxide or peroxynitrite. The first pathway involves oneelectron oxidation of nitrite by the classical peroxidase intermediates compound I and compound II, whereas in the second pathway peroxynitrite is generated by reaction between enzyme-bound nitrite and hydrogen peroxide. The two mechanisms can be simultaneously operative, and their relative importance depends on the reagent concentrations. With HRP the peroxynitrite pathway contributes significantly only at relatively high nitrite concentrations, but for LPO this represents the main pathway even at relatively low (pathophysiological) nitrite concentrations and explains the high efficiency of the enzyme in the nitration.

95 Nitric oxide, superoxide, and peroxynitrite: the good, the bad, and ugly. Beckman JS, Koppenol WH. Department of Anesthesiology, University of Alabama at Birmingham 35233, USA. Nitric oxide contrasts with most intercellular messengers because it diffuses rapidly and isotropically through most tissues with little reaction but cannot be transported through the vasculature due to rapid destruction by oxyhemoglobin. The rapid diffusion of nitric oxide between cells allows it to locally integrate the responses of blood vessels to turbulence, modulate synaptic plasticity in neurons, and control the oscillatory behavior of neuronal networks. Nitric oxide is not necessarily short lived and is intrinsically no more reactive than oxygen. The reactivity of nitric oxide per se has been greatly overestimated in vitro because no drain is provided to remove nitric oxide. Nitric oxide persists in solution for several minutes in micromolar concentrations before it reacts with oxygen to form much stronger oxidants like nitrogen dioxide. Nitric oxide is removed within seconds in vivo by diffusion over 100 microns through tissues to enter red blood cells and react with oxyhemoglobin. The direct toxicity of nitric oxide is modest but is greatly enhanced by reacting with superoxide to form peroxynitrite (ONOO-). Nitric oxide is the only biological molecule produced in high enough concentrations to out-compete superoxide dismutase for superoxide. Peroxynitrite reacts relatively slowly with most biological molecules, making peroxynitrite a selective oxidant. Peroxynitrite modifies tyrosine in proteins to create nitrotyrosines, leaving a footprint detectable in vivo. Nitration of structural proteins, including neurofilaments and actin, can disrupt filament assembly with major pathological consequences. Antibodies to nitrotyrosine have revealed nitration in human atherosclerosis, myocardial ischemia, septic and distressed lung, inflammatory bowel disease, and amyotrophic lateral sclerosis.

96 The important thing in science is not so much to OBTAIN new facts as to DISCOVER new ways of thinking about them. Sir William Bragg ( )

97 Annual Review of Neuroscience Vol. 30: (Volume publication date July 2007) COPPER AND IRON DISORDERS OF THE BRAIN Erik Madsen and Jonathan D. Gitlin Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63130; Copper and iron are transition elements essential for life. These metals are required to maintain the brain's biochemistry such that deficiency or excess of either copper or iron results in central nervous system disease. This review focuses on the inherited disorders in humans that directly affect copper or iron homeostasis in the brain. Elucidation of the molecular genetic basis of these rare disorders has provided insight into the mechanisms of copper and iron acquisition, trafficking, storage, and excretion in the brain. This knowledge permits a greater understanding of copper and iron roles in neurobiology and neurologic disease and may allow for the development of therapeutic approaches where aberrant metal homeostasis is implicated in disease pathogenesis.

98 Titre du document / Document title CSF copper concentrations, blood-brain barrier function, and coeruloplasmin synthesis during the treatment of Wilson's disease Auteur(s) / Author(s) STUERENBURG H. J. (1) ; Affiliation(s) du ou des auteurs / Author(s) Affiliation(s) (1) Neurological Department, University Hospital Hamburg - Eppendorf, ALLEMAGNE Résumé / Abstract During the treatment of four patients with cerebral manifestation of Wilson's disease, we measured the copper concentration in the cerebrospinal fluid (CSF) and serum, the serum coeruloplasmin concentration, the free copper concentration in the serum, and the albumin ratio CSF/serum (AR). These measurements were treated as indicators of the copper-related toxic effects on the brain and the bloodbrain barrier (BBB). The half - life of the decrease in the CSF copper concentration during therapy was 23.5 ± 5.78 months (mean ± S.E.M.). The therapeutic - target - copper concentration in the CSF (mean normal concentration) is below 20µg/l. The average length of therapy needed to normalize CSF - copper values in our patients with an average initial value of 76.25µg/L was 47 month. During the first 10 month of treatment there was an increase in all cases of the measured disturbance in the blood-brain barrier (measured as the ratio of albumin in CSF to albumin in serum, AR). All patients showed an initial worsening of the neurological condition, on average after 1.75 ± 0.25 months. The maximal rise in AR, from the initial values, was on average 18.4 ± 5.08%; this maximum was reached after an average of 6.9 ± 1.5 months. The AR normalized during therapy, indicating a czwartek, reduction 12 listopada in toxicity 2009 in the blood-brain barrier region. The extent of the AR

99 Diabetes Care 28: , by the American Diabetes Association, Inc. Type 1 Diabetes and Autism Is there a link? Sloane J. Freeman, MD1, Wendy Roberts, MD2 and Denis Daneman, MD1 The prevalence of diabetes in children and youth <18 years of age is 1 in (1). The prevalence of diabetes for those aged <19 years from in Ontario was 1.87 per 1,000 (2). Type 1 diabetes is recognized as a T-cell mediated autoimmune process with a strong genetic contribution (3,4). In 2003, the prevalence of autism spectrum disorder was reported in one study as 3.4 per 1,000 children (5) and in another as 6.7 per 1,000 children (4 per 1,000 children with autism) aged 3 10 years (6) in the U.S. Like type 1 diabetes, both immune-mediated and genetic factors have been implicated in the development of autism (7,8). Based on recent clinical experiences and on the putative autoimmune etiology of these two conditions, we hypothesized that there would be an increased prevalence of autism spectrum disorder in a population of children with type 1 diabetes.

100 HANIA Dgn Autyzm dziecięcy postawiona w Synapsis w kwietniu Anemia. Zaburzenia rozwoju mowy. Od początku były problemy ze ssaniem. Dysplazja stawu biodrowego. Płakała w nocy, była niespokojna wykryto infekcję układu moczowego (ok.5 miesięcy) bakteria Klebsiella pneumoniae. Gdy miała 10 miesięcy rozszerzenie cewki moczowej w narkozie. Leczona furaginem i urotrimem. Kilkakrotnie grypa jelitowa a poza tym wywiad w kierunku kolek i zaparć ujemny. Pokrzywka na skórze kilka miesięcy temu. Gdy miała rok miała pierwsze stymulacje. Ok 1,5 roku dało się zauważyć opóźnienie w rozwoju. Miała stereotypowe zabawy. Łuszczyca u matki ujawniła się po Duomoxie. Alergie u matki na pyłki. OM astma MM nowotwór jelita grubego

101 HANIA Eye-q 3 x dziennie 2 łyżeczki lub 2 kapsułki Probacti 4 1 x dzienie 1 kapsułka Artemida firmy Vision 2 x dziennie 1 kapsułka (znaleźć w internecie) Enterol 1 x dziennie 1 kapsułka Modulatory Homocysteiny Solgar (apteki) 1 kapsułka dziennie Mb12

102 Witam, tak jak obiecałam opiszę co nowego u Haneczki. Z każdym dniem jest coraz lepiej z mową, Hania codziennie mi serwuje nowy zasób słów, odmienia je prawidłowo, zdrabnia, potrafi budować zdania. Jestem ogromnie ucieszona. Mam kontakt z córką o jakim marzyłam, spokojnie możemy się porozumieć. Hania chętnie uczy się nowych słówek, uwielbia zabawy słowne, ma bardzo fajne poczucie humoru (co u dzieci autystycznych jest podobno niemożliwe). Nadal chodzimy na wizyty do neurologopedy, z których jestem ogromnie zadowolona. Hania bardzo zrobiła postępy jeżeli chodzi o zabawę, potrafi sama się bawić, sama sobie organizuje też zabawę i potrafi wciągnąć do niej inne osoby, chętnie bawimy się w sklep, przyjęcia urodzinowe, pokazy mody. Ostatnio chętnie bawi się z wymyślonymi postaciami, "na niby", pokazuje książeczki, objaśnia... bardzo często bawi się z Bartusiem "na niby", to jej przyrodni brat. Niestety żałuję, że oprócz przedszkola i wizyt u taty w domu (wtedy ma właśnie okazję do zabawy z młodszym bratem) nie ma w sąsiedztwie żadnych dzieci, niestety moje przyjaciółki odwlekają decyzję o macierzyństwie..takie czasy. Przyznam się, że skrycie myślę o rodzeństwie dla Hani, wiem, że by się bardzo cieszyła. czas pokaże.

103 PODSUMOWANIE SUMMARY NIE WSZYSTKIM DZIECIOM Z AUTYZMEM MOŻNA POMÓC POPRZEZ LECZENIE MEDYCZNE. JEDNAKŻE, DOBRZE DOBRANE LECZENIE MEDYCZNE CHORÓB, KTÓRE WYSTĘPUJĄ U DZIECI Z AUTYZMEM, UZUPEŁNIANIE NIEDOBORÓW POKARMOWYCH I WŁAŚCIWA DIETA W WIELU PRZYPADKACH PROWADZĄ DO POPRAWY FUNKCJONOWANIA MEDICAL TREATMENT DOES NOT HELP TO ALL CHILDREN WITH AUTISM. NEVERTHELESS, THE PROPER MEDICAL TREATMENT OF UNDERLYING CONDITIONS IN MANY CASES MAY LEAD TO SIGNIFICANT IMPROVEMENT OF FUNCTIONING

104 CZY WŁAŚCIWIE ZDIAGNOZOWALIŚMY TO DZIECKO? DID WE DIAGNOSE THIS CHILD PROPERLY? KAŻDY PRZYPADEK AUTYZMU, ZDIAGNOZOWANY PRZEZ PSYCHOLOGA, POWINIEN BYĆ PODDANY POGŁĘBIONEJ DIAGNOSTYCE MEDYCZNEJ EACH CASE OF AUTISM DIAGNOSED BY PSYCHOLOGISTS, SHOULD BE FOLLOWED BY PROPER IN-DEPTH MEDICAL DIAGNOSIS

105 BASIC INVESTIGATIONS FOR THE CHILDREN WITH AUTISM PODSTAWOWE BAD. LABORATORYJNE U DZIECI Z AUTYZMEM FULL BLOOD HEMATOLOGY AND BIOCHEMISTRY PROTEINOGRAM LIPIDOGRAM THYROID PANEL AMMONIA PEŁNA HEMATOLOGIA I BIOCHEMIA PROTEINOGRAM LIPIDOGRAM PANEL TARCZYCY AMONIAK

106 BASIC INVESTIGATIONS FOR THE CHILDREN WITH AUTISM PODSTAWOWE BAD. LABORATORYJNE U DZIECI Z AUTYZMEM COPPER, ZINC, CERULOPLASMIN IGE, IGA, IGM, IGG STOOL ANALYSIS URINE ANALYSIS microalbumines COPPER, ZINC, CERULOPLASMIN IGE, IGA, IGM, IGG ANALIZA STOLCA ANALIZA MOCZU microalbumines

107 BADANIA DODATKOWE U DZIECI Z AUTYZMEM ADDITIONAL INVESTIGATIONS FOR CHILDREN WITH AUTISM POWINNY BYĆ ZLECANE INDYWIDUALNIE, NA PODSTAWIE WYWIADU I WYNIKÓW BADAŃ PODSTAWOWYCH SHOULD BE PERFORMED ACCORDINGLY TO THE FINDINGS IN ANAMNESIS AND IN BASIC INVESTIGATIONS

108 TRUDNOŚCI DIAGNOSTYCZNE DIAGNOSTIC DIFFICULIES BRAK DOSTĘPU DO BADAŃ LABORATORYJNYCH BRAK NORM DLA DZIECI ZŁE STANDARDY LABORATORYJNE TRUDNOŚCI W INTERPRETACJI INABILITY TO PERFORM LABORATORY TESTS LACK OF REFERENCE RANGES FOR CHILDREN POOR QUALITY OF LABORATORY STANDARDS DIFFICULTIES IN INTERPRETATION

109 DIAGNOSTIC DIFICULTIES TRUDNOŚCI DIAGNOSTYCZNE BRAK DOSTĘPU DO NAJNOWSZEJ WIEDZY NA TEMAT AUTYZMU LIMITED ACCESS TO MOST UPDATED SCIENTIFICAL DATA FOR ASD BRAK WYMIANY INTELEKTUALNEJ LACK OF INTELECTUAL EXCHANGE

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112 When you are right you cannot be too radical; when you are wrong, you cannot be too conservative. Martin Luther King Jr. ( )

113

114 Stańczyk by Jan Matejko The jester is the only person at a royal ball who is troubled by the news that the Russians have captured Smolensk.

115 STAŃCZYK THE MOST FAMOUS JESTER IN POLISH HISTORY HE WAS MUCH MORE THAN A MERE ENTERNAINER POLITICAL PHILOSOPHER GIFTED WITH FORMIDABLE INSIGHT SOME WRITERS TREATED HIM AS A SYMBOL OF POLAND S STRUGGLE FOR IDEPENDENCE OTHERS PROVIDED HIM WITH RATHER SHAKESPEREAN TRAITS

116 MAGDALENA CUBAŁA- KUCHARSKA Arcana Specjalistyczna Praktyka Lekarska, Warszawa, POLSKA Autism Treatment Trust, Edinburgh, UK BREAKSPEAR MEDICAL GROUP, HEMEL HAMPSTEAD UK

117 DEFEAT AUTISM NOW! DZIĘKUJĘ ZA MOŻLIWOŚĆ NAUKI I WYMIANY MYŚLI THANK YOU!

118 Socrates There is only one good, knowledge, and one evil, ignorance. jedno tylko jest dobro wiedza, i jedno złoignorancja

119