Strength training can be enjoyable and beneficial for adults with cerebral palsy

Purpose: To explore the positive and negative perceptions of participating in a strength- training programme for adults with cerebral palsy.

Method: Ten adults aged over 40 years with cerebral palsy participated in a group-based 10-week progressive resistance strength-training programme in a community gymnasium. After the programme, each participant was interviewed using an in-depth semi-structured format and the results coded thematically.

Results: Participants perceived that their strength, and ability to perform everyday activities had improved. However, the main benefit for participants was enjoyment and social interaction. The only negative perceptions related to fatigue, short-term muscle soreness and a feeling that they had not improved as much as they had expected.

Conclusions: Enjoyment, a factor that can promote adherence and sustainability, was a key benefit of this strength-training programme for adults with cerebral palsy that led to perceptions of increased strength and physical functioning. These findings suggest that exercise programmes for adults with cerebral palsy should be conducted in a group in the community, thereby promoting community inclusion. In addition, it is important to provide education to participants about the normal responses and expectations of an exercise programme.     

Heart valve disease in women in the reproductive age

About 1% of pregnant women have concomitant cardiac disease. An understanding of the impact of the physiologic changes associated with pregnancy upon structural cardiac disease is essential for proper counseling and management of these complex patients, which should be treated in a specialized team with experience in congenital as well adult disease. The availability of echocardiography provides information about disease aetiology, accurate and non invasive assessment of severity and means of monitoring progression. Contraindication for pregnancies still remain severe pulmonary artery hypertension and Eisenmenger-syndrome and severe surgical non corrected cyanotic disease as well. Postrheumatic stenosis, even when previously asymptomatic, can lead to pulmonary edema. Although pregnancies with asymptomatic regurgitant lesions are better tolerated. The best procedure in severe aortic insufficiency still remains controversial. Patients with Marfan syndrome and aortic root dilatation are at risk for aortic dissection and are difficult to manage. In patients with artificial valves continuing anticoagulation with warfarin is proposed in Europe. Due to accelerated valve deterioration during pregnancy the use of bioprotheses in women who need valvular heart surgery before pregnancy necessitate later valve replacement again and perhaps an autograft or homograft could be an alternate approach. Bacterial endocarditis in pregnancy shows a low incidence and is often associated with prior history of rheumatic or congenital heart disease. Therefore prophylaxis is recommended. There is an increase in the incidence of congenital heart disease among the offsprings of affected parents. Fetal echocardiography, in combination with a multidisciplinary postnatal approach, can be used in the successful treatment of severe form of congenital heart disease.     

Posttraumatic nightmares and psychopathology in children after road traffic accidents

Posttraumatic nightmares are considered as a reexperiencing symptom of the DSM‐IV posttraumatic stress disorder (PTSD) diagnosis. Different types of posttraumatic nightmares, however, may differ in their relation to psychopathology. Thirty‐two children were longitudinally assessed 10 days, 2 months, and 6 months after traffic accidents. Occurrence and characteristics of nightmares were examined and their relation to psychopathology assessed. Thirty‐four percent of children reported posttraumatic nightmares during at least one assessment. Exact replicative nightmares at baseline assessment predicted PTSD symptoms 2 and 6 months postaccident, but not depressive symptoms. Exact replicative nightmares revealed the strongest cross‐sectional association with trauma‐specific psychopathology but not with depression. The authors conclude that posttraumatic nightmares—especially exact replicative ones—may be closely related to psychopathological mechanisms of posttraumatic stress in children.     

The mutation spectrum in RECQL4 diseases

Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund-Thomson (RTS), RAPADILINO and Baller-Gerold (BGS), are characterized by growth retardation and radial defects, but RAPADILINO syndrome lacks the main dermal manifestation, poikiloderma that is a hallmark feature in both RTS and BGS. It has been previously shown that RTS patients with RECQL4 mutations are at increased risk of osteosarcoma, but the precise incidence of cancer in RAPADILINO and BGS has not been determined. Here, we report that RAPADILINO patients identified as carriers of the c.1390+2delT mutation (p.Ala420_Ala463del) are at increased risk to develop lymphoma or osteosarcoma (6 out of 15 patients). We also summarize all the published RECQL4 mutations and their associated cancer cases and provide an update of 14 novel RECQL4 mutations with accompanying clinical data.