Research Interests
Our major research interests are (1) to uncover fundamental principles of clinical pediatric research and (2) to enable such studies by advancing clinical work in pediatric departments und pediatric institutions.
Ongoing projects include:
Clinical Genetics:
Research in Rare Pediatric Genetic Diseases in Childhood
- Achondroplasia
New Aspects of treatment with highly FGFR-3 selective tyrosine kinase inhibitors (TYRA-300, LOXO-435)
Source:
Bittmann S.
Oral Infigratinib Therapy in Children with Achondroplasia.
N Engl J Med. 2025 Jun 19;392(23):2387-2388. doi: 10.1056/NEJMc2504219. PMID: 40532159
Bittmann S:
Editorial: Achondroplasia in Childhood: Treat or Cure?
International Journal of Pediatrics and Child Health, 2025, Vol. 13
Bittmann S:
What is the Clue to Treat or Cure Achondroplasia in Childhood: A Future Perspective.
American Journal of Biomedical Science and Research, 2025 28(1) AJBSR.MS.ID.003645
- Autism Research
Source:
Bittmann S.
Is a Synaptic Dysfunction the Origin of Autism?
Journal of Pediatrics, Perinatology and Child Health, 9 (2025): 37-45
Bittmann S.
A Brief Overview on SYNGAP1 Gene Related Autism.
Asian Journal of Pediatric Research, Volume 15, Issue 3, Page 42-46, 2025; Article no.AJPR.132327
Stefan Bittmann, Elisabeth Luchter, Marco Castilho and Renata Moldenhauer Minillo:
Novel KMT5B Variant c.889A>G: p. (Ile297Val) Associated with Autism Spectrum Disorder in a 9 Years-Old Brazilian Boy.
American Journal of Biomedical Science and Research, 2025 25(4) AJBSR.MS.ID.003345
Bittmann S.
The Role of Synaptic Cargo Transporters in Regulating Neuronal Excitation/Inhibition Balance in Autism Spectrum Disorders: A Focus on Syntabulin syntaxin 1 A/B Axis.
Asian Journal of Pediatric Research, Volume 14, Issue 12, Page 37-46, 2024; Article no.AJPR.126643
Stefan Bittmann:
The Role of Synaptic Dysfunction as a Key Driver in Autism Pathogenesis.
Asian Journal of Pediatric Research, Volume 14, Issue 11, Page 55-67, 2024; Article no.AJPR.126641
Bittmann, S.:
Is a Synaptic Dysfunction the Origin of Autism?
Preprints 2024, 2024102314. https://doi.org/10.20944/preprints202410.2314.v
- Charcot-Marie Tooth Neuropathy
Charcot-Marie-Tooth disease (CMT) affects 1 in 2500 people and more than 30 gene mutations play a causative role. It is the eponym for heritable peripheral neuropathy and is named for 3 investigators in the late 1800s. Different forms of CMT exist and the classification is still not completely ruled out. Mutations of the inverted formin-2 gene (INF-2) were identified in patients with focal segmental glomerulosclerosis (FSGS) and autosomal dominant intermediate Charcot-Marie Tooth (DI-CMT) disease. A novel unclassified variante, c.2659GA; p.E887K(het.), located on chromosome 14q32.33, was identified in a 21 months old child with unknown peripheral neuropathy and muscular weakness. The mutation leads to a change of amino acid glutamate to lysine in position 887. This variante was not described yet in world literature.
Source:
Bittmann S, Luchter E, Weissenstein A, Villalon G
A new variante of INF2-gene mutation: Correlation with Charcot-Marie-Tooth type E neuropathy?
Journal of Pediatric Diseases, Journal of Pediatric Diseases (2018) Volume 2
- Bestrophinopathy
Source:
Bittmann S, Luchter E, Villalon G, Moschuring-Alieva E, Bittmann L, Weissenstein A.
First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers.
J Clin Med Res. 2022 Apr;14(4):174-176. doi: 10.14740/jocmr4709. Epub 2022 Apr 12. PMID: 35573931; PMCID: PMC9076138.
Alice in Wonderland Syndrome
Physical abuse of children can induce AIWS seizures?“ In diverse publications Ped Mind Institute induces the hypothesis, due to clinical experience with elder woman, describing their experience as a child towards physical abuse and AIWS seizures. Any correlations could exist and are basis of further study. Moreover studies suggest, that AIWS seizures can be triggered by body position or bei inducible by mediation setting. Genetic aspects seem also play an important role in AIWS.
Source:
Stefan Bittmann, Buchveröffentlichung 01/2025:
Alice in Wonderland Syndrome in childhood: abuse is the root?
Generis Publishing, ISBN 979-8-89248-801-38-801-3
Bittmann S.
The Missing Pages: The Origin of Alice Wonderland Syndrome.
Journal of Pediatrics, Perinatology and Child Health.. 9 (2025): 01-13.
Bittmann S
The clue to the unknown origin of Alice in Wonderland in Children?
Pediatr Res Child Health. 2018;1:001.
Bittmann S, Luchter E, Villalon G
Does sexual abuse play a causative role in Alice in Wonderland Syndrome in Childhood? A help screaming from internet.
J Perina Clin Pediatr. 2018;104.
Bittmann S
Abuse in children: Indicator of failure in relationship?
Advances in Pediatric Research 2018;5:16
Bittmann S
Alice in Wonderland Syndrome in childhood: Abuse is the root?
J Pediatr Dis. 2018;2.
Bittmann S, Moschüring-Alieva E, Luchter E, Weissenstein A, Villalon G
Another Case of Physical Abuse In Childhood Between Age 7-11 and Alice In Wonderland-Like Seizures Retrospectively Described By A 45 Years-Old Man In Detail
Journal of Regenerative Biology and Medicine, 2021;3(4)1-8
Bittmann S, Luchter E, Moschüring-Alieva E, Weissenstein A and Villalon G
Triggered Alice in Wonderland-like Disturbed Visual Body Sensations Arbitrarily Inducible by Firm Hand Position in a Pillow in Bed Since Age 6
American Journal of Biomedical Science and Research, 2020 - 10.34297/AJBSR.2020.10.001512
Bittmann S, Moschüring-Alieva E, Luchter E, Weissenstein A, Bittmann L and Villalon G
Alice in Wonderland Syndrome: The First Case of Arbitrary, Reproducible, Early Childhood AIWS-like Visual Sensations in a Meditation Settin American
Journal of Biomedical Science and Research, 2020 - 9(3). AJBSR.MS.ID.001395
Bittmann S
The real origin of Alice in Wonderland Syndrome in Childhood is still unknown: Does physical abuse play a major role?
Editorial as Editor in Chief; Journal of Clinical Cases and Reports, Volume 2, Issue 1, 2019, Indien
Bittmann S
The origin of Alice in Wonderland Syndrome: Charles Dodgson and his attraction to small children Editorial
Advances in Pediatric Research 5:24, 2019
Child Abuse
„Abuse in Children-Indicator of failure in relationship“
Violence against children have been found many centuries ago and was found in different cultures. Children have been depressed by war, bad life conditions and alimentation. In old testament many cases of punishment by the father as education were found and accepted. To date, many children must work under hard living and working conditions in agriculture and craft business. Till the period of enlightenment, children and newborn were divided early from their parents. The french doctor Tardieu published the first manuscript about abuse in children and the consequences of this, an interesting work that was not spent much public attention. The first trial at dish was present 1890 in New York. The situation of the violent abuse of a young girl was analyzed according the animal protection law. Sigmund Freud analyzed in the early stage of psychoanalytics, that different neurotic behavioral disturbances in adults could be related as a consequence of childhood abuse. Coffey and Kempe found in the 1950th, that abuse and repeat of abuse is often found in newborn and toddler age and that abuse of children is found in every social strata. In the last 30 years, especially since 2006, different spectacular cases of abuse in children, a growing interest of public and politics was found. Nevertheless a great disagreement in public is found, who is all responsible for child abuse. Is it only the parents, who take care for their children or the duty of the country, to secure children from abuse? In which way are pediatricians, teacher, youth offices or other cultural facilities responsible for child abuse? Different institutions have been related to cases of child abuse: pediatricians, general practitioners, pediatric surgeons, youth offices, family law, prosecutor, health office, police and institute of legal medicine. Many other institutions will be involved. The german civil code paragraph 1631 describes, that children have the right for non-violent education. Münchhausen by proxy syndrome describes a form of abuse, where mothers send their children often to a doctor and think their child is ill anywhere. In these cases, the mother is psychological ill and needs treatment.
Source:
Bittmann S (2018)
Abuse in children: Indicator of failure in relationship?
Adv Pediatr Res 5:16. doi:10.24105/apr. 2018.5.16