Newborns, infants and epilepsy – the missing piece of software

Diagnosing epilepsy on a small child is a challenge. A child’s brain undergoes tremendous changes during the first years, creating new neural connections every second. It follows from this that what the parents and the physician may regard as abnormal behavior, can be perfectly normal. However, in some cases the abnormal behavior may be caused by epilepsy. In that case, either a detailed description of the seizure or, preferably, an eye-witness’ recording of it is invaluable in terms of making an accurate diagnosis. Naturally, an EEG is also needed. Obtaining relevant, detailed information from parents is not always a straightforward matter. In order to enable collecting more accurate information about episodes that are potentially epileptic, new practices and technologies are needed. In the following viewpoint we present what can be called the missing piece of software

Natural history of alpha-thalassemia X-linked intellectual disability syndrome : A case report of a 45-year-old man

We have followed the clinical course of a 45-year-old man with a severe form of alpha-thalassemia X-linked intellectual disability syndrome for 40 years. The most challenging health issue is the combination of rumination, drooling, and vomiting. The patient achieved present adaptive and motor skills in his teenage years. He is able to move on the floor in a sitting position. He seems happy and has not shown any behavioral or psychiatric symptoms. New signs not described in the literature before are accelerated growth after puberty and atypical sleeping position with upper body resting on legs.Non peer reviewe

Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome

Peer reviewe

Kuinka yleisiä ovat lihastaudit Suomessa?

• Lihastautauteja sairastavien tarkkaa määrää Suomessa ei tiedetä. Kirjallisuuden perusteella luvun arvioidaan voivan olla jopa lähes 17 000. • Uudet, kalliit hoidot vaativat huolellista seurantaa. • Kattavalla kansallisella lihastautirekisterillä olisi suuri merkitys hoidon kehittämisen, kansainvälisen yhteistyön ja resurssien suuntaamisen kannalta.</p

Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man

We have followed the clinical course of a 45-year-old man with a severe form of alpha-thalassemia X-linked intellectual disability syndrome for 40 years. The most challenging health issue is the combination of rumination, drooling, and vomiting. The patient achieved present adaptive and motor skills in his teenage years. He is able to move on the floor in a sitting position. He seems happy and has not shown any behavioral or psychiatric symptoms. New signs not described in the literature before are accelerated growth after puberty and atypical sleeping position with upper body resting on legs

Newborns, infants and epilepsy - the missing piece of software

Diagnosing epilepsy on a small child is a challenge. A child’s brain undergoes tremendous changes during the first years, creating new neural connections every second. It follows from this that what the parents and the physician may regard as abnormal behavior, can be perfectly normal. However, in some cases the abnormal behavior may be caused by epilepsy. In that case, either a detailed description of the seizure or, preferably, an eye-witness’ recording of it is invaluable in terms of making an accurate diagnosis. Naturally, an EEG is also needed. Obtaining relevant, detailed information from parents is not always a straightforward matter. In order to enable collecting more accurate information about episodes that are potentially epileptic, new practices and technologies are needed. In the following viewpoint we present what can be called the missing piece of software.</p

Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB)

Muscle-eye-brain disease (MEB) is a recessively inherited rare disease. Sixteen different gene mutations are known, with the most common mutations in the POMGNT1 gene. The disease is now called congenital muscular dystrophy-dystroglycanopathy type A3 (MDDGA3). It manifests itself as muscular dystrophy with eye and brain anomalies and intellectual disability. Previous clinical reports describe young patients. We have been able to follow two patients for almost 40 years. Their clinical picture has remained quite stable since adolescence, appearing as severe intellectual and motor disability, extremely limited communication skills, visual impairment, epilepsy, joint contractures, repeated bowel obstructions, teeth abrasion due to bruxism, an irregular sleep pattern and as a previously unreported feature hypothermic periods manifesting as excessive sleepiness

Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome

Exome sequencing revealed the cause of our 35-year-old male patient's progressive and severe intellectual and motor disability, namely a previously undescribed missense mutation of MECP2

Non-invasive therapeutic brain stimulation for treatment of resistant focal epilepsy in a teenager

A 13-year-old boy with symptomatic focal epilepsy due to a right parietal dysembryoplastic neuroepithelial tumor (DNET) presented pre- and post-operatively fluctuating tinnitus and sensory symptoms which became persistent after incomplete tumor resection. He received low-frequency rTMS treatment and cathodal tDCS treatment.Case report with clinical details and pictures from rTMS and tDCS stimulation targets.The patient became symptom free with an initial low-frequency rTMS treatment series targeted to the EEG-verified epileptic zone followed by maintenance therapy at the same region with cathodal tDCS at home.Both rTMS and tDCS could be more often used in adolescents when drug treatment and surgery do not cease focal epilepsy, here with fluctuating tinnitus.\nAims\nMethods\nResults\nConclusions</div