Editorial: A Child with ADNP Syndrome: A Case Study of Symptoms, Diagnostic Process and Innovative Behavioral Intervention Modes

Case Study The boy was born from the first, uneventful pregnancy, spontaneously delivered at 37 weeks and 3 days of gestation, in the breech position. Hearing was assessed as normal using otoacoustic emissions (OAE, sounds produced by the inner ear in response to auditory stimuli), with tympanometri...

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Bibliographic Details
Published inJournal of molecular neuroscience Vol. 75; no. 2; p. 53
Main Authors Holec, Miroslav, Gozes, Illana
Format Journal Article
LanguageEnglish
Published New York Springer US 24.04.2025
Springer Nature B.V
Subjects
ADNP protein
Autism
Behavior modification
Biomedical and Life Sciences
Biomedicine
Cell Biology
Child development
Cooperation
Magnetic resonance imaging
Mutation
Neurochemistry
Neurology
Neurosciences
Proteins
Proteomics
Thyroid gland
Visual acuity
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Summary:Case Study The boy was born from the first, uneventful pregnancy, spontaneously delivered at 37 weeks and 3 days of gestation, in the breech position. Hearing was assessed as normal using otoacoustic emissions (OAE, sounds produced by the inner ear in response to auditory stimuli), with tympanometric curves showing type C on the left and type A on the right, indicating slight asymmetry. At 25 months of age, an endocrinological evaluation was performed, including blood tests for TSH (thyroid-stimulating hormone), free-T4 (free thyroxine), and free-T3 (free triiodothyronine), hormones used to assess thyroid function, as well as a sonographic examination. [See PDF for image] Fig. 3 Weight to height ratio (red dots, case study) [See PDF for image] Fig. 4 Head circumference (red dots, case study) Up to the present time, short tantrums occur on average five times a week, during which the boy seeks elevated places where he feels more comfortable.
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ISSN:1559-1166
0895-8696
1559-1166
DOI:10.1007/s12031-025-02344-5