Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down's syndrome

BACKGROUND: Several theorists maintain that exact number abilities rely on language-relevant processes whereas approximate number calls on visuo-spatial skills. We chose two genetic disorders, Williams syndrome and Down's syndrome, which differ in their relative abilities in verbal versus spatial skills, to examine this hypothesis. Five experiments assessed number skills in these two genetic syndromes and in their mental age (MA) and chronological age (CA) matched controls. METHODS: Experiment 1 used a preferential looking paradigm with infants and toddlers to measure sensitivity to changes in numerosity. Experiment 2 measured reaction times in older children and adults in a numerosity comparison task with dots in a random pattern. Experiment 3 comprised a number battery that measured various forms of counting and simple arithmetic. RESULTS: The WS infants displayed a level of performance equal to that of their CA-controls, whereas the DS infants failed to reach even the level of their MA-controls. By contrast, the older DS children and adults outstripped the older WS group in their numerosity abilities, with different patterns of errors in the two clinical groups. CONCLUSIONS: Differences in the infant and adult number phenotypes between these two genetic disorders are discussed with reference to the processing styles used by each group and how these might impact on their developmental trajectories. Theoretically, we highlight our contention that one cannot infer the infant starting state from the adult end state. Rather, the development process itself must be taken into account.     

Staphylococcal toxic syndrome, atypical presentation of Kawasaki syndrome or staphylococcal skin syndrome?]

CASE REPORT: A three-year-old girl was admitted for persistent fever, erythermatous rash with subsequent desquamation, stomatitis, cheleitis and cervical lymphadenopathy following development of a buttock abscess secondary to an insect bite. A TSS-positive Staphylococcus aureus strain was isolated from the abscess. COMMENTS: Both clinical and bacteriological features led to discuss a "toxic shock syndrome without shock", an atypical form of Kawasaki syndrome without thrombocytosis and coronary arteritis or a staphylococcal skin syndrome. An early treatment with antibiotics could have limited the toxin production explaining both symptomatology and favourable course of the disease.     

Guillain-Barré syndrome

? Based on strong research evidence, in countries where poliomyelitis has been eliminated, GBS is the most common cause of acquired paralysis in children. (9) ? Based on strong research evidence, GBS describes a spectrum of disorders caused by an autoimmune reaction against peripheral nerve components, including the myelin sheath and the axon. (10)(11) ? Based on strong research evidence, GBS usually is preceded by a bacterial or viral infection, less likely by vaccination in the 1 to 4 weeks before onset. The strongest relationship is with infection by C jejuni. (12)(13) ? Based on strong research evidence, GBS in children most often presents with symmetrical ascending paralysis, diminished or absent reflexes, and often severe pain. Pain may lead to a delay in diagnosis. (2) (3)(9)(14) ? Based on strong research evidence, the progressive phase peaks in 7 to 14 days and can lead to various levels of weakness, from abnormal gait to total paralysis, cranial nerve weakness, pain, respiratory compromise, and autonomic instability. (2) ? Based on some research evidence and consensus, children require hospitalization and often intensive care until their condition stabilizes because of significant risk of respiratory compromise and autonomic instability. (15) ? Based on strong research evidence in adults and some research evidence in children, IVIG and plasma exchange hasten recovery from GBS in patients with impaired ability to ambulate. (4)(6) ? Based primarily on consensus, IVIG is the treatment of choice in children with GBS. (6)(9)(15) ? Based on strong research evidence, the prognosis for full functional recovery in childhood GBS is excellent. (2)(8)(9).     

Papillon-Lefèvre syndrome

Papillon- Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis, periodontopathy and precocious loss of dentition. The exact pathomechanism of these clinical events mainly remains speculative. This paper describes two cases of PLS with classic clinical features and briefly review the relevant literature.     

Waugh’s syndrome

Severe leptospirosis rarely presents with primary pulmonary manifestations, without any associated jaundice or renal dysfunction. The authors report a nine-year-old boy who presented with complaints of abrupt onset of high fever; with myalgia, headache, and pain in right chest region, productive cough with hemoptysis and vomiting developing over the past 72 hours. Chest radiograph showed consolidation in the right upper lobe with air bronchogram. A history of contact with sewage water and presence of conjunctival suffusion in a child with pneumonia made us suspect leptospirosis. Following prompt initiation of parenteral penicillin therapy the child's complaints resolved over the next five days. Dri-Dot test to detect anti-Leptospira antibodies was positive. The diagnosis of leptospirosis was confirmed by a positive microagglutination test to Leptospira interrogans serovar Australis by a fourfold rise in antibody titer in paired sera collected during convalescence. Leptospirosis presenting with pulmonary hemorrhage has been associated with significant mortality but it can be successfully treated with early clinical suspicion of alveolar hemorrhage and prompt therapy.     

Leigh’s syndrome

A 15-month-old female child presented with sudden onset cough and hyperventilation along with evidence of metabolic acidosis. She had past history of recurrent vomiting, episodes of abnormal posturing, difficulty in deglutition and regression of milestones since 12 months of age. CT scan of the brain revealed hypodense lesions in bilateral basal ganglia and on MRI there were T2 hyperintensities in bilateral lentiform nuclei, caudate nuclei, thalamus, red nuclei and dentate nuclei. Biochemical examination revealed persistently elevated serum lactate levels with high lactate/pyruvate ratio. Resuscitative measures were of no avail and the child succumbed to the illness on the second day of admission. Neuropathological examination at autopsy demonstrated marked spongiosis, focal necrosis, endothelial proliferation, reactive astrogliosis and extensive demyelination involving bilateral basal ganglia, midbrain and spinal cord which were typical of Leigh’s sub acute necrotizing encephalomyelopathy.     

Prolonged Guillain-Barré syndrome

Outcome in Guillain-Barré syndrome (GBS) in childhood is usually favorable although prolonged and severe forms may develop. We report the case of a 12-year-old boy with rapidly ascending, slowly-progressive GBS with severe cranial nerve and autonomic dysfunction. Diagnosis was based on clinical presentation, electromyography, cerebrospinal fluid analysis and plasmatic antiganglioside GM1 antibodies. Early treatment with an initial loading dose of 2 g/kg of intravenous gammaglobulins over 5 days was given with a significant but slow clinical improvement. A repeat infusion of gammaglobulins was given two months later. Response was satisfactory with motor, sensory and autonomic dysfunction recovery. A third course of immunoglobulins 28 days later produced little benefit. At the present time, 5 months after the onset of the disease, flaccid paralysis of the lower limbs and the distal portion of the upper limbs persists but autonomic instability has disappeared. The patient has been decannulated and is following an ambulatory rehabilitation program. Although repeated intravenous immunoglobulins may be useful in the treatment of prolonged GBS, the key issue is excellent intensive care unit management. Further research examining potentially more effective treatment such as beta-interferon and immunosuppressive agents is required.     

Kallmann’s syndrome

Kallmann’s syndrome is a rare genetic disorder due to abnormal migration of olfactory axons and gonadotropin releasing hormone producing neurons, characterized by hypogonadism and anosmia. The prevalence of Kallmann’s syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. The inheritance of Kallmann’s syndrome may be X-linked, autosomal recessive or autosomal dominant with variable penetrance, mutation involving KAL-1 and KAL-2 gene respectively. We report a case of Kallmann’s syndrome in a 19-year-old boy with characteristic clinical, biochemical and MRI findings.     

Cushing’s syndrome

Endogenous Cushing’s Syndrome (CS) is a relatively uncommon disease in children. The etiology is more often a primary adrenal cause in infants and younger children, and corticotroph adenoma in older ones. Diagnostic evaluation must be stepwise and methodical, aimed at first confirming the presence of the disease, and then looking for the etiology. The management should preferably the carried out at a centre which is experienced in the management of CS. Recent advances, including MRI, sensitive ACTH assays, inferior petrosal sinus sampling (IPSS) and transsphenoidal surgery (TSS) have dramatically improved the care of children with CS. However, the issue of high recurrence rates after TSS in children remains to be tackled. The prognosis of adrenal carcinoma still remains dismal.