Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder

2019 ◽  
Vol 179 (11) ◽  
pp. 2257-2262
Author(s):  
François Lecoquierre ◽  
Antoine Bonnevalle ◽  
Alexandra Chadie ◽  
Claire Gayet ◽  
Clémentine Dumant‐Forest ◽  
...  
Keyword(s):  
Developmental Disorder ◽  
Deficiency Syndrome

Das Konzept der «Multiple Complex Developmental Disorder» (MCDD)

2012 ◽  
Vol 40 (5) ◽  
pp. 341-349 ◽  
Author(s):  
Inge Kamp-Becker ◽  
Klaus Baumann ◽  
Linda Sprenger ◽  
Katja Becker
Keyword(s):  
Developmental Disorder ◽  
Wird Eine ◽  
Icd 10 ◽  
Dsm Iv ◽  
Multiple Complex Developmental Disorder ◽  
Complex Developmental Disorder

Fragestellung: Die «Multiple complex developmental disorder» (MCDD) ist ein wenig bekanntes Störungsbild, das durch Auffälligkeiten in der Emotionsregulation, der sozialen Interaktion und Denkstörungen gekennzeichnet ist. Weder im Klassifikationssystem des ICD-10, noch im DSM-IV kommt diese Diagnose vor. Methodik: In der vorliegenden Arbeit wird eine Übersicht über die diagnostischen Kriterien und den aktuellen Forschungsstand zum Konzept der MCDD gegeben und anhand einer Kasuistik eines 17-jährigen Jugendlichen illustriert. Ergebnis: Das Störungsbild der MCDD weist Überschneidungen zu autistischen Störungen, aber auch zu Störungen aus dem schizophrenen Formenkreis auf. Eine klare Abgrenzung bzw. Zuordnung ist bisher nicht eindeutig möglich. Schlussfolgerungen: Viele Fragen bezüglich des Störungsbildes bleiben offen, weitere Forschung ist hier vonnöten.

Moving past the vaccine/autism controversy - to examine potential vaccine neurological harms

2020 ◽  
pp. 1-15
Author(s):  
Peter R. Breggin
Keyword(s):  
Neurological Disorders ◽  
Developmental Disorder ◽  
Physical Symptoms ◽  
Psychosocial Disorders ◽  
The Us ◽  
Potential Vaccine ◽  
Research And Education ◽  
The Brain ◽  
New Vaccines

BACKGROUND: The vaccine/autism controversy has caused vast scientific and public confusion, and it has set back research and education into genuine vaccine-induced neurological disorders. The great strawman of autism has been so emphasized by the vaccine industry that it, and it alone, often appears in authoritative discussions of adverse effects of the MMR and other vaccines. By dismissing the chimerical vaccine/autism controversy, vaccine defenders often dismiss all genuinely neurological aftereffects of the MMR (measles, mumps, and rubella) and other vaccines, including well-documented events, such as relatively rare cases of encephalopathy and encephalitis. OBJECTIVE: This report explains that autism is not a physical or neurological disorder. It is not caused by injury or disease of the brain. It is a developmental disorder that has no physical origins and no physical symptoms. It is extremely unlikely that vaccines are causing autism; but it is extremely likely that they are causing more neurological damage than currently appreciated, some of it resulting in psychosocial disabilities that can be confused with autism and other psychosocial disorders. This confusion between a developmental, psychosocial disorder and a physical neurological disease has played into the hands of interest groups who want to deny that vaccines have any neurological and associated neuropsychiatric effects. METHODS: A review of the scientific literature, textbooks, and related media commentary is integrated with basic clinical knowledge. RESULTS: This report shows how scientific sources have used the vaccine/autism controversy to avoid dealing with genuine neurological risks associated with vaccines and summarizes evidence that vaccines, including the MMR, can cause serious neurological disorders. Manufacturers have been allowed by the US Food and Drug Administration (FDA) to gain vaccine approval without placebo-controlled clinical trials. CONCLUSIONS: The misleading vaccine autism controversy must be set aside in favor of examining actual neurological harms associated with vaccines, including building on existing research that has been ignored. Manufacturers of vaccines must be required to conduct placebo-controlled clinical studies for existing vaccines and for government approval of new vaccines. Many probable or confirmed neurological adverse events occur within a few days or weeks after immunization and could be detected if the trials were sufficiently large. Contrary to current opinion, large, long-term placebo-controlled trials of existing and new vaccines would be relatively easy and safe to conduct.

A novel IGSF1 mutation in a large Irish kindred highlights the need for family screening in the IGSF1 deficiency syndrome

2017 ◽  
Author(s):  
Edna Roche ◽  
Anne McGowan ◽  
Olympia Koulouri ◽  
Marc-Olivier Turgeon ◽  
Adeline K Nicholas ◽  
...  
Keyword(s):  
Deficiency Syndrome ◽  
Family Screening
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