Biomedical subjects

Ingegerd Witt Engerström

Publications and source records attributed to Ingegerd Witt Engerström.

5 recordsLinked to original sources

PubMed2006

Communication and eating proficiency in 125 females with Rett syndrome: The Swedish Rett Center Survey.

PURPOSE: To describe communication and eating proficiency and related factors in Swedish females with Rett syndrome, from a parental/caregiver view. METHOD: Data from a questionnaire were used and approached descriptively, qualitatively and comparatively. Parents/caregivers of 125 females with Rett syndrome completed the survey. The mean age of the females was 19.6 years. RESULTS: Communication: expressive language was limited and the most common way of expressing will was by producing motor acts, 50% of which were higher level of language (eye- and finger-pointing and gestures). Results also showed communicative behaviour was demonstrated during social activities. Eating proficiency: For eight specific types of eating difficulties, the majority of the females suffered from none, one or two of them. There were significant associations of some specific eating difficulties with breathing dysfunctions and food consistency, but not with dental or oral problems. CONCLUSIONS: Results from this study have confirmed that verbal communication in Rett syndrome is limited. Despite a lack of verbal communication the females in this study were reported to need and enjoy social interplay. Outcomes concerning eating were generally good. For optimal intervention, it is recommended that family and professionals work together to evaluate eating situations and communication ability for females with Rett syndrome.

Activities of Daily Living↗

PubMed2006

Management of a severe forceful breather with Rett syndrome using carbogen.

We have used a novel neurophysiological technique in the NeuroScope system in combination with conventional electroencephalography (EEG) to monitor both brainstem and cortical activity simultaneously in real-time in a girl with Rett syndrome. The presenting clinical features in our patient were severe sleep disturbances, irregular breathing in the awake state dominated by Valsalva's type of breathing followed by tachypnoea and very frequent attacks of seizures and vacant spells. Our novel neurophysiological data showed that the patient was a Forceful Breather according to the breathing categories in Rett syndrome. She had frequent abnormal spontaneous brainstem activation (ASBA) preceded by severe attacks of hypocapnoea, which was caused by a combination of Valsalva's type of breathing and tachypnoea and all these together were responsible for the seizures and non-epileptic vacant spells. The ASBA was not detectable in conventional EEG and there were no epileptiform changes in the EEG during the seizures and vacant spells caused by the hypocapnic attacks, therefore these were pseudo-seizures. The record of brainstem activity confirmed that these were autonomic events, a kind of "brainstem epilepsy". We successfully treated the sleep disturbance with Pipamperone, a 5-hydroxytryptophan antagonist of receptor type 2 and we prevented the severe hypocapnoea during Valsalva's type of breathing and during tachypnoea using carbogen (a mixture of 5% carbon dioxide and 95% oxygen), which we gave by inhalation. Our treatment drastically reduced the autonomic events, promoted whole night sleep and significantly improved the quality of life in our patient. She can now participate in normal family activity which was previously impossible before treatment.

Antipsychotic Agents↗

PubMed2005

Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome.

We have investigated whether brainstem assessment using the Neuro Scope could be used for objective and quantitative monitoring of early development and later progress in Rett syndrome. Brainstem features can be seen on bedside examination of Rett patients and are included in the International Scoring system. The following cardiovascular vital signs were recorded simultaneously in real-time: cardiac vagal tone (CVT), cardiac sensitivity to baroreflex (CSB), heart rate (HR), and mean arterial blood pressure (MAP) and respiratory vital signs: breathing rate and pattern, transcutaneous partial pressures of oxygen (pO(2)) and carbon dioxide (pCO(2)). We assessed the occipito-frontal head circumference (OFHC), height and body mass index (BMI). Results are from 72 patients with classical Rett syndrome studied at the Swedish National Rett Centre. Three cardiorespiratory phenotypes, designated Forceful, Feeble and Apneustic breathers were present in similar proportions in the Rett population but early development measured by OFHC and BMI differed. Height was not affected. Baseline levels of CVT and CSB also differed within the phenotypes indicating differences in parasympathetic activities. However, parasympathetic activity in the whole population was similar to that previously reported in Rett. Baseline levels of MAP and HR were similar across the phenotypes, consistent with previous reports of little effect of Rett disorder on baseline sympathetic tone. Adverse responses to opiate analgesics and hypocapnoeic attacks were unique to specific phenotypes. We recommend early characterisation of these phenotypes in the management of Rett syndrome. We conclude that classical Rett syndrome consists of heterogeneous clinical phenotypes with distinct cardiorespiratory states. Brainstem functions can be used to identify these and to monitor development and treatment, thereby facilitating clinical management.

Adolescent↗

PubMed2005

Rett syndrome from a family perspective: The Swedish Rett Center survey.

The aim of this study was to make a description of the early development in individuals with the diagnosis Rett syndrome using parents' information. Information received from 125 cases of Rett syndrome in Sweden in 1997 provided us with families' description of early development in gross motor function, fine motor function and communication/social interplay. Best abilities before regression were presented, 62% lost their best abilities, 22% kept them and 5% kept them with deterioration. Seventy-three percent learnt to walk, 20% stopped walking and 2% retrained walking. Concerning feeding, 69% learnt to feed themselves, 57% lost this ability, 7% retrained the ability and 5% learnt to feed after regression. Sixty-four percent were one year or younger when there was a deviation in development. Sixty answers reported the girl was late in developing functions while 35 reported sudden loss of reached abilities. Seventy-four percent developed a scoliosis and 83% reported other deformities; of these, deformities in feet were the most common. Postural control was poor since all but 15 girls/women learnt in different directions when sitting. Transitional movements were difficult to perform. In 80% of cases, the families were those who suspected early that something was wrong in the child's development. Because of this it is essential that medical staff is aware of the different ways RS develops in order to give families early appropriate support and a plan for intervention. Since there is not only loss of function in this group but also kept abilities, retrained abilities and abilities achieved after regression, more research has to be focused on management and treatment to help persons with Rett syndrome keep and develop abilities according to their individual resources.

Activities of Daily Living↗

PubMed2005

Preface.

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Humans↗