Clinical Decision Making in an Infant With Hypotonia and Gross Motor Delay: A Case Report of Type 1 Spinal Muscular Atrophy
Physical Therapy, April 24, 2013
Malerba KH et al. - Children often are referred for physical therapy with the diagnosis of hypotonia when the definitive cause of hypotonia is unknown. The purpose of this case report is to describe the clinical decision-making process using the Hypothesis-Oriented Algorithm for Clinicians II (HOAC II) for an infant with hypotonia and gross motor delay. Physical therapists use clinical decision making to determine whether to treat patients or to refer them to other medical ...
Clinical Decision Making in an Infant With Hypotonia and Gross Motor Delay: A Case Report of Spinal Muscular Atrophy Type 1
Physical Therapy, March 15, 2013
Malerba KH et al. - The purpose of this case report is to describe the clinical decision making process using the HOAC II for a 5 month old patient with hypotonia and gross motor delay. Physical therapists use clinical decision making to determine whether to treat or to refer to other medical professionals. Accurate and timely referral to appropriate specialists may assist families in obtaining a diagnosis for their child and guide necessary interventions. In the case of SMA Type 1, ...
Early clinical signs in neonates with hypoxic ischemic encephalopathy predict an abnormal amplitude-integrated electroencephalogram at age 6 hours
BMC Pediatrics, April 18, 2013
Horn AR et al. – The encephalopathy assessment described by the Thompson score at age 3––5 hours is a sensitive predictor of either an abnormal 6–hour aEEG or moderate–severe encephalopathy presenting within 72 hours after birth. An early Thompson score may be useful to assist with triage and selection of infants for therapeutic hypothermia.
Sixty infants >= 36 weeks gestational age were prospectively enrolled following suspected intrapartum hypoxia and signs of ...
Deletion of 3p25.3 in a Patient With Intellectual Disability and Dysmorphic Features With Further Definition of a Critical Region
American Journal of Medical Genetics Part A, May 1, 2013
Kellogg G et al. - The authors report on an 11-year-old girl with intellectual disability, obsessive–compulsive tendencies, hypotonia, and dysmorphic facial features in whom a 684kb interstitial 3p25.3 deletion was characterized using array-CGH. This deletion overlaps with interstitial 3p25 deletions reported in three recent case reports. These deletions share a 124kb overlap region including only three RefSeq annotated genes, THUMPD3, SETD5, and LOC440944. The current ...
Non-ketotic hyperglycinaemia: case report and review of medical literature
The Journal of Maternal-Fetal and Neonatal Medicine, March 28, 2013
Madu AE et al. - Rare inheritable conditions may present without warning in the neonatal period and thus lead curious staff to institute expansive clinical investigations. Non-ketotic hyperglycaemia (NKH) in a normal fully grown male infant following an essentially eventful pregnancy associated with unrelated condition provoked much clinical curiosity. NKH should therefore be included as a differential diagnosis in an unwell neonate presenting with hiccoughs, seizures, myotonic ...
Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation
European Journal of Paediatric Neurology, April 8, 2013
Tsoutsou E et al. - A 28-month-old girl with dysmorphic craniofacial features, microcephaly, hypotonia, psychomotor retardation, failure to thrive and gastrointestinal problems was referred for clinical evaluation. Array-CGH analysis revealed one of the smallest de novo microdeletions on chromosome 16q21q22.1, 2.03 Mb in size. Advanced molecular analysis contributes to more precise genotype–phenotype correlation and accurate definition of the breakpoints in the ...
Spinal muscular atrophy due to a de novo 1.3Mb deletion: Implication for genetic counseling
Neuromuscular Disorders, May 2, 2013
da Silva LRJ et al. - The authors report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young and non-consanguineous couple. The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation of the tongue, and severe respiratory muscle involvement.
A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy
Journal of Child Neurology, May 10, 2013
Utine GE et al. - GRID2 is a member of the ionotropic glutamate receptor family of excitatory neurotransmitter receptors. The phenotype includes nystagmus, hypotonia with marked developmental delay in gross motor skills in early infancy followed by a static encephalopathy course with development of cerebellar ataxia, oculomotor apraxia, and pyramidal tract involvement.
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts
Journal of Child Neurology, May 13, 2013
Abumansour IS et al. - The authors present a neonate with a severe neurologic phenotype associated with hypotonia, oropharyngeal incoordination that required a gastric tube for feeding, intractable epilepsy, and congenital cataracts. Her brain magnetic resonance imaging (MRI) showed classical lissencephaly, ventriculomegaly, absent corpus callosum, globular and vertical hippocampi, and severe cerebellar and brainstem hypoplasia. She died at 6 weeks of age. No specific molecular diagnosis ...
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Journal of Medical Genetics, May 6, 2013
Kvarnung M et al. - Authors delineate the molecular basis for a novel autosomal recessive syndrome, characterised by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings. identified mutations in PIGT as the cause of a novel autosomal recessive intellectual disability syndrome. Our results demonstrate a new pathogenic mechanism in the GPI anchor pathway and expand the clinical spectrum of ...