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Nutrition
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
2.21. A child with moderate malnutrition following a chronic diarrhoeal illness is likely to havea greater fall off in length centile than of head circumference centile.muscle hypotonia.loss of turgor.hyperkalaemia.iron deficiency anaemia.
Diseases of the Nervous System
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
This condition occurs in two forms: idiopathic or ketotic hyperglycinemia and hyperglycemia with hypooxaluria or nonketotic hyperglycemia. Both forms are characterized by elevated blood glycine levels. The symptoms of this metabolic disorder appear soon after birth and death follows very quickly. The severity of the neonatal manifestations of the disease suggests that some cases die in utero. The clinical symptoms are vomiting, lethargy, metabolic and respiratory acidosis, and acetonuria. In some cases, extreme hypotonia and abnormal electrocardiogram have found. Infants surviving the first few months developed thrombocytopenia, neutropenia, and osteoporosis. Protein feeding or the administration of some amino acids, such as valine, leucine, isoleucine, methionine, or threonine, provoke acute attacks. It is curious that glycine elicits no adverse symptoms although hyperglycinemia is the major sign of the disease. During attacks the urinary excretion of several ketones is highly elevated, such as acetoacetic acid, acetone, methyl ethyl ketone, methyl isopropyl ketone, 2-pentanone, 3-pentanone, which intermittently disappear and reappear.
Genetics
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Jane A. Hurst, Richard H. Scott
The facial appearance is characteristic but may be difficult to recognise in early infancy. Features include arched eyebrows with lateral sparseness, long palpebral fissures with eversion of the lateral portion of the lower lid and prominent cupped ears (Figs 15.31, 15.32). Growth retardation including microcephaly occurs, often with other congenital anomalies including congenital heart disease, cleft palate and structural renal abnormalities. Immune dysfunction is often present. Hypotonia is common in infancy and development is delayed. Learning difficulties are typically moderate.
Characteristic behaviors associated with gait of individuals with Rett syndrome
Published in Disability and Rehabilitation, 2022
David R. Young, Bernhard Suter, Jackson T. Levine, Daniel G. Glaze, Charles S. Layne
Rett syndrome (RTT) is a neurodevelopmental disorder that affects approximately one in 10,000 live female births. Typically, RTT is the result of a mutation in the methyl-CpG-binding protein 2 (MECP2) gene. Individuals with RTT display an apparently healthy developmental progression until age 6–18 months, after which they stall, and later regress in motor, language, and social skills [1]. Among the most reported motor dysfunctions are early hypotonia evolving into hypertonia and stereotypic hand motions, as well as ataxic gait and postural control difficulties. Previous investigation has found that approximately only half of those with RTT can walk with assistance, and 75% of ambulatory individuals with RTT can walk without assistance [2]. Presumably, these mobility deficits lead to poorer physical fitness and overall health status. Moreover, it has been reported that there is an association between spatio-temporal gait characteristics and level of physical fitness in individuals with intellectual disabilities (ID), further suggesting that poor gait control is related to low physical fitness [3]. As there is no current cure for RTT, developing protocols that can effectively improve gait are important for enhancing mobility of individuals with RTT. Previously, it has been reported that improving the walking ability of patients with RTT would decrease spasticity, control development of foot anatomical deformities, and promote a degree personal independence [4–7]. Downs et al. [6] suggested that promoting an active lifestyle, including a walking program, may lead to health benefits and improved quality of life.
Classification of Congenital Zika Syndrome: Muscle Tone, Motor Type, Body Segments Affected, and Gross Motor Function
Published in Developmental Neurorehabilitation, 2021
Janiele de Sales Tavares, Gabriela Lopes Gama, Marcia Cristina Dias Borges, Agda Cristina de Sousa Santos, Jousilene de Sales Tavares, Melania Maria Ramos Amorim, Adriana Melo
Bodensteiner et al.24 stated that hypotonia is difficult to classify and is mostly identified at the end of the first year of life. Hypotonia can be associated with lesions to the suprasegmental or segmental structures of the CNS. In the case of suprasegmental lesions, hypotonia is generally associated with widespread injury to the CNS including the basal nuclei and the red nucleus, the cerebellum and precentral gyrus, commonly resulting in clinical signs such as delayed cognitive development, convulsions and hyperreflexia.31 This is commonly associated with severe motor impairment, hampering possible differentiation between hypotonia and muscle weakness. Remarkably, lesions to the cerebellum and basal nuclei are characteristic of CZS, supporting the hypothesis of hypotonia.
Co-occurrence of incontinentia pigmenti and down syndrome: examining patients’ potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease
Published in Ophthalmic Genetics, 2021
David C. Gibson, Natario L. Couser, Kayla B. King
Physical examination showed a well-nourished infant. Facial features included epicanthal folds, up-slanted palpebral fissures, flat nasal bridge, and a large protruding tongue. Ocular examination revealed bilateral astigmatism. There were no lid, conjunctival, scleral, or corneal lesions. Fundus examination was unremarkable and showed normal vasculature. There was no strabismus or nystagmus present. Neurological examination revealed no global or focal deficits; however, musculoskeletal examination revealed mild hypotonia. A large umbilical hernia was noted upon abdominal examination, but there were no other masses or hepatosplenomegaly present. The rest of the physical examination was normal besides upper airway stridor and a soft 1–2/6 ejection murmur upon auscultation of the neck and thorax.