Primary Disorders of Neurotransmitter Metabolism: Experience of a Tertiary Center

Neurotransmitter diseases are a group of inherited disorders attributable to a disturbance of neurotransmitter metabolism. Biogenic amines are neurotransmitters with multiple roles including psychomotor function, hormone secretion, cardiovascular, respiratory and gastrointestinal control, sleep mechanisms, body temperature and pain. Given the multiple functions of monoamines, disorders of their metabolism comprise a wide spectrum of manifestations, with motor dysfunction being the most prominent clinical feature. Methods: Case review of 12 patients from 4 families, with primary disorders of biogenic amine metabolism. Results: Aromatic L-amino acid decarboxylase deficiency (4 patients from 2 families), and GTP-cyclohydrolase (8 patients from 2 families) were the two diseases identified. Age at first symptoms varied between 2 months and 6 years. Developmental delay was present in all cases except 2 patients with GTP cyclohydrolase deficiency. The combination of axial hypotonia and limb dystonia was also frequent. Children with aromatic L-amino acid decarboxylase deficiency exhibited temperature instability, oculogyric crisis and disturbances of sleep. The index case of one family with GTP cyclohydrolase deficiency presented with Parkinsonism (bradykinesia, rigidity and hypomimia). Analysis of neurotransmitters and their metabolites in CSF was crucial for the identification of index cases. Response to therapy was variable but in general unsatisfactory except in a family with GTP cyclohydrolase deficiency. Conclusions: These disorders should be considered in the differential diagnosis of paediatric neurodegenerative diseases, in order to allow an adequate therapeutic trial that can favor prognosis.

Mutilations Due to Medical Disorders in Children

Soft-tissue and bone necrosis, although rare in childhood, occasionally occur in the course of infectious diseases, either viral or bacterial, and seem to be the result of hypoperfusion on a background of disseminated intravascular coagulation. Treatment consists in correction of septic shock and control of necrosis. Necrosis, once started, shows extraordinarily rapid evolution, leading to soft-tissue and bone destruction and resulting in anatomic, functional, psychological, and social handicaps. Ten mutilated children were treated from January 1986 to January 1999 in Hospital de Dona Estefaˆ nia, Lisbon, Portugal. One was recovering from hemolytic-uremic syndrome with a severe combined immunodeficiency, another malnourished, anemic child had malaria, and three had chicken pox (in one case complicated by meningococcal septicemia). There were three cases of meningococcal and two of pyocyanic septicemia (one in a burned child and one in a patient with infectious mononucleosis). The lower limbs (knee,leg, foot) were involved in five cases, the face (ear, nose, lip) in four, the perineum in three, the pelvis (inguinal region, iliac crest) in two, the axilla in one, and the upper limb (radius, hand) in two. Primary prevention is based on early recognition of risk factors and timely correction. Secondary prevention consists of immediate etiologic and thrombolytic treatment to restrict the area of necrosis. Tertiary prevention relies on adequate rehabilitation with physiotherapy and secondary operations to obtain the best possible functional and esthetic result.

A Communication Intervention for Training Southern European Oncologists to Recognize Psychosocial Morbidity in Cancer. I - Development of the Model and Preliminary Results on Physicians' Satisfaction

BACKGROUND: The detection of psychosocial distress is a significant communication problem in Southern Europe and other countries. Work in this area is hampered by a lack of data. Because not much is known about training aimed at improving the recognition of psychosocial disorders in cancer patients, we developed a basic course model for medical oncology professionals. METHODS: A specific educational and experiential model (12 hours divided into 2 modules) involving formal teaching (ie, journal articles, large-group presentations), practice in small groups (ie, small-group exercises and role playing), and discussion in large groups was developed with the aim of improving the ability of oncologists to detect emotional disturbances in cancer patients (ie, depression, anxiety, and adjustment disorders). RESULTS: A total of 30 oncologists from 3 Southern European countries (Italy, Portugal, and Spain) participated in the workshop. The training course was well accepted by most participants who expressed general satisfaction and a positive subjective perception of the utility of the course for clinical practice. Of the total participants, 28 physicians (93.3%) thought that had they been exposed to this material sooner, they would have incorporated the techniques received in the workshop into their practices; 2 participants stated they would likely have done so. Half of the doctors (n = 15) believed that their clinical communication techniques were improved by participating in the workshop, and the remaining half thought that their abilities to communicate with cancer patients had improved. CONCLUSIONS: This model is a feasible approach for oncologists and is easily applicable to various oncology settings. Further studies will demonstrate the effectiveness of this method for improving oncologists skills in recognizing emotional disorders in their patients with cancer.

HCV Infection in Patients with Hereditary Bleeding Disorders

Introduction: Hepatitis C virus (HCV) infection in patients with hereditary bleeding disorders (HBDs), as a consequence of treatment with transfusion of human bloodderived components between the late 1970s and 1980s, represents a major health concern. Objectives: Assessment and evaluation of the burden of HCV infection, its complications, and treatment in a population of patients with HBDs. Methods: Analysis of a series of 161 patients with HBDs treated in the Immunohemotherapy Service of the Centro Hospitalar de Lisboa Central (Lisboa, Portugal), consultation and systematic review of the patients clinical processes, elaboration of a database comprising the information gathered; and statistical study of its variables: age, gender, degree of severity of the bleeding disorder, treatment modality, and major and minor complications of HCV infection. Results: Sixty-five (40%) of the 161 patients have HCV infection. Among the patients with hemophilia A, 36% are severe and 62% of those have HCV infection; 9% moderate with 57%; 25% mild with 20%. In the hemophilia B group, 8% are severe with 23% infected and 6% moderate or mild with 10%. Concerning the patients with von Willebrand disease, 12% have type 2 with 16% infected and 4% have type 3 with 86%. Conclusions: HCV infection represents a very significant complication of the treatment employed in the past in the studied population. Considering that most of these patients were infected in the late 1970s and early 1980s, and the natural evolution of HCV infection in patients without bleeding disorders, it is expected that the prevalence of major complications will rise significantly in the coming years. Prophylactic measures should be implemented to enhance the follow-up protocols and prevent further development of liver damage in these patients.

Validating Regulatory Sensory Processing Disorders Using the Sensory Profile and Child Behavior Checklist (CBCL 1 –5)

The objective was to validate Regulatory Sensory Processing Disorders’ criteria (DC:0-3R, 2005) using empirical data on the presence and severity of sensory modulation deficits and specific psychiatric symptoms in clinical samples. Sixty toddlers who attended a child mental health unit were diagnosed by a clinical team. The following two groups were created: toddlers with RSPD(N = 14) and those with ‘‘other diagnoses in Axis I/II of the DC:0-3R00(OD3R) (N = 46). Independently of the clinical process, parents completed the Infant Toddler Sensory Profile (as a checklist for sensory symptoms) and the Achenbach Behavior Checklist for ages 1/2–5 (CBCL 1/2–5). The scores from the two groups were compared. The results showed the following for the RSPD group: a higher number of affected sensory areas and patterns than in the OD3R group; a higher percentage of sensory deficits in specific sensory categories; and a higher severity of behavioral symptoms such as withdrawal, inattention, other externalizing problems and pervasive developmental problems in CBCL 1/2–5. The results confirmed our hypotheses by indicating a higher severity of sensory symptoms and identifying specific behavioral problems in children with RSPD. The results revealed convergent validity between the instruments and the diagnostic criteria for RSPD and supported the validity of RSPD as a unique diagnosis. The findings also suggested the importance of identifying sensory modulation deficits in order to develop an early intervention to enhance the sensory capacities of children who do not fully satisfy the criteria for some DSM-IV-TR disorders.

Development of The Viking Speech Scale to Classify the Speech of Children with Cerebral Palsy

Surveillance registers monitor the prevalence of cerebral palsy and the severity of resulting impairments across time and place. The motor disorders of cerebral palsy can affect children’s speech production and limit their intelligibility. We describe the development of a scale to classify children’s speech performance for use in cerebral palsy surveillance registers, and its reliability across raters and across time. Speech and language therapists, other healthcare professionals and parents classified the speech of 139 children with cerebral palsy (85 boys, 54 girls; mean age 6.03 years, SD 1.09) from observation and previous knowledge of the children. Another group of health professionals rated children’s speech from information in their medical notes. With the exception of parents, raters reclassified children’s speech at least four weeks after their initial classification. Raters were asked to rate how easy the scale was to use and how well the scale described the child’s speech production using Likert scales. Inter-rater reliability was moderate to substantial (k > .58 for all comparisons). Test–retest reliability was substantial to almost perfect for all groups (k > .68). Over 74% of raters found the scale easy or very easy to use; 66% of parents and over 70% of health care professionals judged the scale to describe children’s speech well or very well. We conclude that the Viking Speech Scale is a reliable tool to describe the speech performance of children with cerebral palsy, which can be applied through direct observation of children or through case note review.

Personality, Brain Asymmetry, and Neuroendocrine Reactivity in Two Immune-Mediated Disorders: a Preliminary Report

Development of some immune-mediated disorders may depend on dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis. To explore neuropsychologic mechanisms in relation to the abnormal endocrine reactivity in patients with systemic lupus erythematosus (SLE) and chronic hepatitis C (CHC) we used the corticotropin releasing hormone (CRH) test, the Minnesota Multiphasic Personality Inventory (MMPI), and the Edinburgh Inventory of Manual Preference Inventory (EIMP). Compared to controls, the adrenocorticotrophic hormone (ACTH) response to CRH was reduced in CHC, while SLE presented reduced baseline dehydroepiandrosterone sulfate levels; higher neurotic scores were found in SLE and higher behavior deviant scores in CHC. Peak ACTH levels were a significant factor for the MMPI profile variability, while the manual preference score was a significant factor for the ACTH response. Personality and manual preference contribute to neuroendocrine abnormalities. Different behavioral and neuroimmunoendocrine models emerge for these disorders.

Analysis of Highly Conserved Regions of the 3'UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental Retardation

In this work we explored the role of the 3'UTR of the MECP2 gene in patients with clinical diagnosis of RTT and mental retardation; focusing on regions of the 3'UTR with almost 100% conservation at the nucleotide level among mouse and human. By mutation scanning (DOVAM-S technique) the MECP2 3'UTR of a total of 66 affected females were studied. Five3'UTR variants in the MECP2 were found (c.1461+9G>A, c.1461+98insA, c.2595G>A, c.9961C>G and c.9964delC) in our group of patients. None of the variants found is located in putative protein-binding sites nor predicted to have a pathogenic role. Our data suggest that mutations in this region do not account for a large proportion of the RTT cases without a genetic explanation.

The Support Role in Clinical Supervision of Nursing Students: Determinant in the Development of Emotional Skills

The problematic situation faced by clients, associated to the processes of health and disease, is expressed through emotions that nursing students have to deal with in the course of care and their formative experiences in clinical teaching. Students have learning needs not only to manage emotions in the context of customer care, but also in terms of their own internal world, emotional conflicts, emotional stress and burn-out. With the present literature review, we intend to explore existing evidence regarding the ways in which the nurse supervisor's support towards nursing students potentiates the development of their competences for the performance of emotional labour. These skills prove to be the key in the ability to manage the emotionally intense situations of care practice and the support function of the nursing supervisor contributes to the development of such competences.