An Investigation of the Neurological and Neuropsychiatric Disturbances in Adults with Undiagnosed and/or Untreated Phenylketonuria in Poland

Background The aim of the study was to determine neurological and neuropsychiatric manifestations in a group of patients with previously undiagnosed or untreated phenylketonuria (PKU) in the south‐eastern part of Poland. Methods The study was conducted among 400 adults with severe intellectual disability who were born prior to neonatal screening and who resided in Social Welfare Homes in south‐eastern Poland. Participants were aged between 27 and 89 years (mean 51 years). The screening for PKU was performed by blood test using tandem mass spectrometry method (MS/MS) and analysis of organic acids in urine. Among all new identified untreated individuals, neurological symptoms were recorded and neuropsychiatric disturbances were assessed with The Neuropsychiatric Inventory‐Nursing Home Version (NPI‐NH). Results We found 10 previously undiagnosed and one previously diagnosed but untreated individuals with PKU (four women and seven men). The most commonly exhibited neurological manifestations included the following: profound speech disturbances, balance disturbances, muscular hypertonicity, muscular tremors and seizures. The most frequent behaviours included the following: aberrant/troublesome motor behaviour, agitation/aggression and euphoria/elation. Conclusion Data from the present study indicate that future treatment of these individuals should combine a dietary intervention with individual behavioural therapy and neurorehabilitation to improve general health and quality of life.     

Classification of patients with myelodysplasia according to the level of neurosegmental lesion as a basis of motor function assessment

The purpose of this article is to present the current principles of comprehensive assessment and treatment of patients with myelomeningocele. We present the connection between the level of neurosegmental lesion according to modified Sharrard's classification and functional abilities of the patient. We describe lower limbs deformity typically associated with neurosegmental lesions of spina bifida at different levels (I to VI). The classification of neurosegmental lesion levels is based on an evaluation of muscle strength of individual muscle groups according to the Lovett scale.     

C-reactive protein and glucose regulation in familial longevity

Earlier, we showed that the offspring from exceptionally long-lived families have a more favorable glucose metabolism when compared with controls. As chronic low-grade inflammation has been regarded as a strong risk factor for insulin resistance, we evaluated if and to what extent the favorable glucose metabolism in offspring from long-lived families could be explained by differences in subclinical inflammation, as estimated from circulating levels of C-reactive protein. We found no difference between the two groups in C-reactive protein levels or in the distribution of C-reactive protein haplotypes. However, among controls higher levels of C-reactive protein were related to higher glucose levels, whereas among offspring levels of C-reactive protein were unrelated to glucose levels. It is a limitation of the current study that its cross-sectional nature does not allow for assessment of cause–effect relationships. One possible interpretation of these data is that the offspring from long-lived families might be able to regulate glucose levels more tightly under conditions of low-grade inflammation. To test this hypothesis, our future research will be focused on assessing the robustness of insulin sensitivity in response to various challenges in offspring from long-lived families and controls.     

Huntington’s disease from the patient, caregiver and physician’s perspectives: three sides of the same coin?

The aim of this study was to identify determinants of functional disability, patient’s quality of life (QoL) and caregivers’ burden in Huntington’s disease (HD). Eighty HD patients participated in the study. Motor and behavioral disturbances as well as cognitive impairment were assessed using motor, behavioral and cognitive parts of the Unified Huntington Disease Rating Scale (UHDRS); Hamilton Depression Rating Scale was used to assess depression. Disability, health-related QoL and the impact of the disease on the caregivers were assessed using the following methods: UHDRS Functional Assessment Score, SF-36 Scale and Caregiver Burden Inventory. Multiple regression analysis showed that motor disturbances, cognitive impairment, apathy and disease duration were the independent predictors of disability. Depression and cognitive disturbances were the determinants of patient’s QoL, while motor disturbances and depression were the predictors of the caregiver burden. Patient’s disability and QoL as well as caregivers’ burden should be taken into consideration while planning treatment strategy and the results of the present study show that the predictors of those treatment targets are different.