Psychological capital, quality of life, and well-being in mother caregivers of individuals with down syndrome.

Introduction: Caused by an error in cell division that produces an additional chromosome 21, Down syndrome (DS) is one of the most common developmental disorders in the world. This study aims to analyze the relationship between psychological capital, quality of life and well-being of caregivers of individuals with Down syndrome (DS). Methods: The participants were 98 caregivers (mothers, M = 52.13, SD = 11.39) of individuals with Down syndrome. The instruments used were the Psychological Capital Questionnaire (measuring self-efficacy, resilience, optimism, and hope), Quality of Life Questionnaire (including social support, general satisfaction, physical/psychological health, absence of excessive workload/free time), and Psychological Wellbeing Scale, investigating the following dimensions: self-acceptance, positive relationships with others, autonomy, environmental mastery, purpose in life, and personal growth. Results: The mediation analysis showed that self-efficacy, hope, and resilience are positively associated to quality of life, and optimism is positively associated to well-being. The total effects of psychological capital on well-being are positive and significant and quality of life mediates the relationship between psychological capital and well-being. Discussion: These results show that psychological capital is an important inner resource for caregivers of DS individuals and must be improved through support services, so that caregivers have a higher perception of the quality of life and implicitly of well-being.

Hereditary spastic paraplegia.

Hereditary spastic paraplegia (HSP) or Strümpell-Lorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4.3 to 9.6 cases per 100,000 population. A common feature of these disorders is the slowly progressive and often severe spasticity, noticeably especially in the low limbs. Conventionally, HSP is divided into two clinical groups, uncomplicated (pure spastic paraplegia) or complicated HSP depending on the presence of other neurological features in addition to spastic paraparesis. Inheritance may be autosomal dominant, autosomal recessive or rarely X-linked, but autosomal dominant inheritance is most commonly associated with pure forms of the disease, whereas autosomal recessive HSP shows greater phenotypic variability, including several well-defined syndromes. Genetic studies have revealed as many as 31 different chromosomal HSP loci. We investigated two subjects, brother and sister, who were diagnosed using the criteria for a diagnosis of HSP proposed by Fink (1996), as "definitely affected" with HSP. As some particularities, we noticed an iliopsoas pseudohypertrophy in male patient and a mild atrophy in female, maybe due to degeneration of anterior columns. Family history recorded the presence of same manifestations in relatives. The pedigree of patients revealed some anomalies that could be related with the pathology. Our findings supported the diagnosis of complicated form of HSP in both cases.

Merosin-deficient congenital muscular dystrophy type 1A.

Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin alpha-2 gene (LAMA2), localized to chromosome 6q22-23. The diagnosis of merosin-deficient CMD is based on the clinical findings of severe congenital hypotonia, weakness, with high blood levels of creatine kinase, WM abnormalities, and dystrophy associated with negative immunostaining of biopsied muscle for merosin. We investigated clinical and laboratory a patient: a girl with merosin-deficient congenital muscular dystrophy type 1A. Clinically the particularity of the case is the association of merosin-negative congenital muscular dystrophy (MN-CMD) with congenital feet deformity. The level of serum creatine kinase is elevated 1045 U/L. Immunohistochemistry show presence of dystrophin, lack of merosin, also the utrophin is normally expressed. Nerve conduction studies are normally, while electromyography suggested a myopathic process with early recruitment and decreased amplitude and duration of response. Magnetic resonance imaging: MRI T1 and MRI T2 show hypointensity and diffuse hyperintensity respectively in the white matter. Supratentorial MRI images showed hypotrophy of the corpus callosum and almost absent cingulate gyrus. In addition, hypophysis is reduced size.

Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth (CMT) disease is a group of genetic peripheral neuropathies that is associated with a broad variety of clinical genetic features. Most CMT syndromes are characterized by a progressive muscle weakness and atrophy with a distally pronounced sensory dysfunction. Bone deformities as pes cavus or hammertoes are frequent. The severity of disability varies considerably between different subclasses. Physical examination, electrophysiological testing and family history are current methods to investigate a patient affected by CMT. We used these methods for clinical assessment of two cases. Whenever available molecular genetic testing establishes the certain diagnosis and defines the type of CMT.