Deel 2: Ethiologie van verstandelijke beperking

I Verschillen volgens niveau van beperking Onbekend bij 45-63% van de licht verstandelijk beperkten en bij 30-40% van de matig tot diep verstandelijk beperkten

Indeling van de etiologie volgens de american association of intellectual and developmental disabilities (AAID) Prenatale oorzaken: - genetische aandoeningen: - niet-genetische aandoeningen Perinatale oorzaken Postnatale oorzaken

Aantoonbare genetische oorzaken Detecteerbaar met routine chromosomaal onderzoek (>5Mb): Detecteerbaar met FISH (<5Mb) Detecteerbaar met array based comparative genomic hybridisation Monogene oorzaken

Niet-genetische oorzaken blootstelling vroeg tijdens de zwangerschap aan: - toxische stoffen (alcohol, cocaine) - chemicalia (zware metalen, abortiva) - medicatie (thalidomide, phenytoine) Iodium- en foliumzuur tekorten, ernstige ondervoeding, bestraling, placentaire dysfunctie Maternele infecties (toxoplasmose, rubella, cmv, HIV, syfilis) en maternele ziektes (diabetes, hart-en nieraandoeningen)

Perinatale oorzaken Preclampsie en/of perinatale anoxemie

Postnatale oorzaken Traumatische hersenletsels en ziekten: onbehandelde hypothyroidie en phenylketonurie, mazelen, windpokken, kinkhoest, meningitis Omgevingsfactoren: loodvergiftiging, ernstige verwaarlozing, ernstige en langdurige ondervoeding, mishandeling, onderstimulatie

Prenatale oorzaken: genetische oorzaken Aantoonbaar Niet-aantoonbaar

Aantoonbare genetische oorzaken Detecteerbaar met routine chromosomaal onderzoek (>5Mb): Detecteerbaar met FISH (<5Mb) Detecteerbaar met array based comparative genomic hybridisation Monogene oorzaken

Aantoonbare genetische oorzaken Klinisch beeld: - Prof . Dr. G. Van Buggenhout Gedragskenmerken - deze les

Indeling van de etiologie volgens de american association of intellectual and developmental disabilities (AAID) Prenatale oorzaken: - genetische oorzaken - niet-genetische oorzaken Perinatale oorzaken Postnatale oorzaken

Injuries to health induced by intrauterine alcohol exposure are summarized under the term fetal alcohol spectrum disorder (FASD). FASD includes fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (pFAS), alcohol related neurodevelopmental disorders (ARND) and alcohol related birth defects (ARBD). Which development-related criteria enable the diagnosis of FAS (0,02-0,8% of annual births) in childhood and adolescence (0–18 years of age)?

Fetal alcohol syndroom (fas) First key recommendation: For the diagnosis of FAS the following abnormalities in all four diagnostic fields should be present: 1.Growth deficits 2.Facial characteristics 3.Abnormalities of the central nervous system (CNS) 4.Confirmed or unconfirmed intrauterine alcohol exposure European Journal of Paediatric Neurology Volume 17, Issue 5 2013 437 - 446

Kleine kinderen Second key recommendation: For the diagnostic field “Growth deficits” at least one of the following abnormalities, adapted to gestational age, age and gender, documented at any time, should be present:1.Birth weight or body weight ≤ 10th percentile 2.Birth length or body length ≤ 10th percentile 3.Body mass index ≤ 10th percentile European Journal of Paediatric Neurology Volume 17, Issue 5 2013 437 - 446

Dunne bovenlip en glad filtrum Third key recommendation: For the diagnostic field “Facial characteristics” the following three facial abnormalities should be present simultaneously and may be present at any age:1.Short palpebral fissure length (≤3rd percentile) 2.Smooth philtrum (Rank 4 or 5 Lip-Philtrum-Guide) 3.Thin upper lip (Rank 4 or 5 Lip-Philtrum-Guide) European Journal of Paediatric Neurology Volume 17, Issue 5 2013 437 - 446

Fig. 2 Lip-Philtrum Guide (© 2013 Susan Astley PhD, University of Washington). Diagnosis of fetal alcohol syndrome (FAS): German guideline version 2013 European Journal of Paediatric Neurology Volume 17, Issue 5 2013 437 - 446 Mirjam N. Landgraf , Monika Nothacker , Florian Heinen

Fig. 3 Measurement of the palpebral fissure length (Copyright Mirjam Landgraf, University of Munich). Mirjam N. Landgraf , Monika Nothacker , Florian Heinen Diagnosis of fetal alcohol syndrome (FAS): German guideline version 2013 European Journal of Paediatric Neurology Volume 17, Issue 5 2013 437 - 446

2.Smooth philtrum (Rank 4 or 5 Lip-Philtrum-Guide) Third key recommendation: For the diagnostic field “Facial characteristics” the following three facial abnormalities should be present simultaneously and may be present at any age:1.Short palpebral fissure length (≤3rd percentile) 2.Smooth philtrum (Rank 4 or 5 Lip-Philtrum-Guide) 3.Thin upper lip (Rank 4 or 5 Lip-Philtrum-Guide) European Journal of Paediatric Neurology Volume 17, Issue 5 2013 437 - 446

Vertraagde ontwikkeling en druk gedrag Fifth key recommendation: For the criteria “Functional CNS abnormalities” at least one of the following deficits, that is not adequate for age and that cannot be explained solely by the familial background or social environment should be found:1.Global intellectual deficit at least two standard deviations below the mean or significant combined developmental delay of children under the age of two years (if measurable by a standardized test at least two standard deviations below the mean). 2.Performance at least two standard deviations below the mean in at least three of the following domains or in at least two of the following domains combined with epilepsy: Language/speech; Fine motor functions; Spatial-visual perception or spatial-constructive skills; Learning or memory skills; Executive functions; Arithmetic skills; Attention; Social skills and behavior European Journal of Paediatric Neurology Volume 17, Issue 5 2013 437 - 446

microcephalie Sixth key recommendation: For the criteria “Structural CNS abnormalities” the following anomaly adapted to gestational age, age and gender, documented at any time, should be found: Microcephaly ≤ 10th percentile/≤3rd percentile European Journal of Paediatric Neurology Volume 17, Issue 5 2013 437 - 446

Zelfs zonder bewijs van alcohol tijdens de zwangerschap Seventh key recommendation: if there are abnormalities in the three other diagnostic fields the diagnosis of FAS should be made even when confirmation of maternal alcohol consumption during pregnancy is lacking. European Journal of Paediatric Neurology Volume 17, Issue 5 2013 437 - 446

Fig. 4 Pocket Guide FAS (example pages). Mirjam N. Landgraf , Monika Nothacker , Florian Heinen Diagnosis of fetal alcohol syndrome (FAS): German guideline version 2013 European Journal of Paediatric Neurology Volume 17, Issue 5 2013 437 - 446 http://dx.doi.org/10.1016/j.ejpn.2013.03.008

Fetal alcohol syndrome

Indeling van de etiologie volgens de american association of intellectual and developmental disabilities (AAID) Prenatale oorzaken: - genetische oorzaken: - niet-genetische oorzaken Perinatale oorzaken Postnatale oorzaken

Perinatale oorzaken Preclampsie en/of perinatale anoxemie

Indeling van de etiologie volgens de american association of intellectual and developmental disabilities (AAID) Prenatale oorzaken: - genetische oorzaken: - niet-genetische oorzaken Perinatale oorzaken Postnatale oorzaken

Postnatale oorzaken Traumatische hersenletsels en ziekten: onbehandelde hypothyroidie en phenylketonurie, mazelen, windpokken, kinkhoest, meningitis Omgevingsfactoren: loodvergiftiging, ernstige verwaarlozing, ernstige en langdurige ondervoeding, mishandeling, onderstimulatie