Assessment of cognitive and adaptive behaviour among individuals with congenital insensitivity to pain and anhidrosis

Erez, Daniella Levy; Levy, Jacov; Friger, Michael; Aharoni-Mayer, Yael; Cohen-Iluz, Moran; Goldstein, Esther

doi:10.1111/j.1469-8749.2009.03567.x

Cited by 29 publications

(19 citation statements)

References 14 publications

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“…The absence of mental retardation is also a feature that distinguishes Norrbottnian HSAN V from both Arab HSAN V and HSAN IV symptoms. Indeed, Arab HSAN V patients are reported to show a delay in mental development (Carvalho et al, 2010), and HSAN IV children suffer severe attention deficit hyperactivity disorder (ADHD; Levy Erez et al, 2010). In the Norrbottnian family only one child showed mild symptoms of ADHD .…”

Section: Mechanisms Of Disease: Impact On Prongf and Ngf Functionmentioning

confidence: 99%

From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V

Capsoni

2014

Eur J of Neuroscience

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Hereditary sensory and autonomic neuropathy type V (HSAN V) is an autosomal recessive disorder characterized by the loss of deep pain perception. The anomalous pain and temperature sensations are due to the absence of nociceptive sensory innervation. The neurotrophin nerve growth factor (NGF), by binding to tropomyosin receptor A (TrkA) and p75NTR receptors, is essential for the development and survival of sensory neurons, and for pain perception during adulthood. Recently a homozygous missense mutation (R100W) in the NGF gene has been identified in HSAN V patients. Interestingly, alterations in NGF signalling, due to mutations in the NGF TRKA gene, have also been involved in another congenital insensitivity to pain, HSAN IV, characterized not only by absence of reaction to painful stimuli, but also anhidrosis and mental retardation. These symptoms are absent in HSAN V patients. Unravelling the mechanisms that underlie the differences between HSAN IV and V could assist in better understanding NGF biology. This review highlights the recent key findings in the understanding of HSAN V, including insights into the molecular mechanisms of the disease, derived from genetic studies of patients with this disorder.

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Section: Mechanisms Of Disease: Impact On Prongf and Ngf Functionmentioning

confidence: 99%

From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V

Capsoni

2014

Eur J of Neuroscience

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“…It is likely that patients with CIPA lack these cholinergic neurons. Assessments of cognitive and adaptive behavior have suggested that many children with CIPA exhibit mental retardation (or learning disabilities) and symptoms of severe attention deficit hyperactivity disorder (Levy Erez et al ., ). Thus, at least some symptoms related to cognitive and adaptive behaviors in CIPA may be caused by the role of cholinergic neurons in attention and memory mechanisms.…”

Section: Functions Of Neurons In Brain Regions That Express Trka Mrnamentioning

confidence: 97%

“…Behaviors of children with CIPA are often characterised as labile, hyperactive and erratic. Assessments of cognitive and adaptive behavior have suggested that many children with CIPA exhibit mental retardation (or learning disabilities) and symptoms of severe attention-deficit-hyperactivity disorder (Levy Erez et al, 2010).…”

Section: Congenital Insensitivity To Pain With Anhidrosismentioning

confidence: 99%

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Neurobiology of pain, interoception and emotional response: lessons from nerve growth factor‐dependent neurons

Indo

2014

Eur J of Neuroscience

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Although nerve growth factor (NGF) is a well-known neurotrophic factor, it also acts as a mediator of pain, itch and inflammation. Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder caused by loss-of-function mutations in NTRK1, the gene encoding a receptor tyrosine kinase for NGF, TrkA. Mutations in NTRK1 cause the selective loss of NGF-dependent neurons in otherwise intact systems. NGF-dependent primary afferents are thinly myelinated Aδ or unmyelinated C-fibers that are dependent on the NGF-TrkA system during development. In CIPA, the lack of pain and the presence of anhidrosis (inability to sweat) are due to the absence of both NGF-dependent primary afferents and sympathetic postganglionic neurons, respectively. These peripheral neurons form an interface between the nervous system and the 'body-proper' and play essential roles in the interoception and sympathetic regulation of various tissues or organs. Patients with CIPA also show mental retardation and characteristic behaviors and are probably neuron-deficient within the brain. However, the functions of NGF-dependent neurons in the brain are controversial, both in animal and in human studies. This review focuses on various brain regions that express TrkA mRNA, based on data from the Allen Human Brain Atlas, and discusses putative neuronal networks related to these brain regions in humans. A better understanding the distribution of NGF-dependent neurons in the brain will provide a framework for further studies to investigate pain, interoception and emotional responses. Furthermore, strategies targeting the molecular mechanisms through which the NGF-TrkA system functions may provide hope for the development of novel analgesics.

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“…They found that these children had lower scores in the intelligence test and the adaptive behavior scale compared with their healthy siblings. IQ was significantly higher among children aged up to 7 years than among the older children . In examinations of Japanese children with HSAN‐IV, Shirakawa and Nihei found that development is variable in preschool children, and reduced interest in objects, a lack of communication, speech delay, autistic traits, and ADHD symptoms, are often observed.…”

Section: Complications and Their Managementmentioning

confidence: 98%

Hereditary sensory and autonomic neuropathy types IV and V in Japan

Haga

Kubota

Miwa

2015

Pediatrics International

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Hereditary sensory and autonomic neuropathy (HSAN) is a group of genetic disorders involving varying sensory and autonomic dysfunction. HSAN types IV and V are characterized by congenital generalized loss of pain and thermal sensation. HSAN type IV is additionally accompanied by decreased sweating and intellectual disability. From 2010 to 2013, we (members of the Japanese Research Group on Congenital Insensitivity to Pain) carried out research on HSAN types IV and V. Research by this group included epidemiological data, examination of clinical findings, solutions of disease etiology, investigation of complications and development of their management. Complications were categorized into musculoskeletal complications, oral/dental complications, dermal complications, ocular complications, complications resulting from impaired thermal control, anesthetic considerations, other complications possibly related to autonomic dysfunction, and abnormal mental development and behavior. Treatment and care for patients with HSAN types IV and V require a wide range of knowledge and experience, and a multidisciplinary team approach. Therefore, we produced the "Guideline of Total Management and Care for Congenital Insensitivity to Pain (Ver.1)" in 2012, to provide information for medical specialists based on our knowledge and experience. This guideline includes medical issues, as well as descriptions of social participation and welfare. This review outlines the situation of HSAN types IV and V in Japan, and the recommendations of treatment and care for patients, mostly based on research conducted by the Japanese Research Group.

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Assessment of cognitive and adaptive behaviour among individuals with congenital insensitivity to pain and anhidrosis

Cited by 29 publications

References 14 publications

From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V

From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V

Neurobiology of pain, interoception and emotional response: lessons from nerve growth factor‐dependent neurons

Hereditary sensory and autonomic neuropathy types IV and V in Japan

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