Olfactory stimulation using black pepper oil facilitates oral feeding in pediatric patients receiving long-term enteral nutrition
feeding difficulties; Costello syndrome; lissencephaly type I; physical intervention; black pepper oil; increased oral intake; enteral nutrition
Patients with severe neurological disorders often require enteral nutrition (EN). Since long-term EN can cause multiple complications, reinstating the oral intake of food is beneficial. Olfactory stimulation using black pepper oil (BPO), a strong appetite stimulant, was reported to facilitate swallowing in order people. Therefore, the effects of olfactory stimulation with BPO were investigated in pediatric patients receiving long-term EN due to neurological disorders. The effects of scenting with BPO for 1 min immediately before every meal were evaluated in ten patients: 4 boys and 6 girls, aged 19-97 months (51 +/- 26 months). The neurological disorders included periventricular leukomalacia (3 patients), hypoxic ischemic encephalopathy (3). Costello syndrome (1), Russell-Silver syndrome (1), Miller-Dieker syndrome (1), and cerebral palsy of unknown etiology (1). In eight of these patients, BPO intervention was continued for 3 months. Five of these eight patients showed increases in the amount of oral intake with desirable effects including facilitated swallowing movement, although complete elimination of the need for EN was not achieved. In the other three patients: BPO intervention was not effective; severe cerebral tissue loss, profound malformation or intractable seizures seemed to reduce the efficacy of BPO. In two cases, BPO intervention was discontinued due to cough or because the odor of BPO was unbearable to the family. In conclusion, olfactory stimulation with BPO facilitated oral intake in a subset of patients on long-term EN. BPO stimulation may be useful or facilitating oral intake when used in combination with conventional methods. © 2008 Tohoku University Medical Press.
Munakata M; Kobayashi K; Niisato-Nezu J; Tanaka S; Kakisaka Y; Ebihara T; Ebihara S; Haginoya K; Tsuchiya S T; Onuma A
Tohoku Journal of Experimental Medicine
2008
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1620/tjem.214.327" target="_blank" rel="noreferrer noopener">10.1620/tjem.214.327</a>
Further delineation of the behavioral and neurologic features in Costello syndrome
Male; Child; Humans; Adolescent; Female; Child Preschool; Infant; Abnormalities Multiple/physiopathology/psychology; Intellectual Disability/physiopathology/psychology; behavioral problems; feeding difficulties; Costello syndrome; trajectory; characteristics; irritability; sleep disturbance
To describe clinical and neurodevelopmental phenotypes of Costello syndrome, we performed a retrospective review of the clinical records and findings in 10 children with Costello syndrome. All patients showed significant postnatal growth retardation and severe feeding difficulties leading to failure to thrive from early infancy. All required tube feeding and some needed high-calorie formulas for variable periods. Developmental quotients/IQs in seven children were 50 or less, and three were in the mildly retarded range. Five had seizures. Remarkable manifestations not previously reported were the characteristic behavior in infancy. Although happy and sociable personality was always emphasized in the genetic literature, all children showed significant irritability, including hypersensitivity to sound and tactile stimuli, sleep disturbance, and excess shyness with strangers in infancy. Those symptoms usually disappeared around age 2-4 years. Other clinical signs included cardiac abnormalities (8), musculoskeletal abnormalities (10), ophthalmological manifestations (5), increased urinary vanillymandelic acid (VMA) and homovanillic acid (HVA) (3), rhabdomyosarcoma (1), laryngomalacia (1), and cryptorchidism (1). Only three girls had papillomata. Family histories were negative for Costello syndrome. In conclusion, we confirm the wide spectrum of mental function in patients with Costello syndrome, which ranges from severe to mild. During infancy Costello syndrome showed remarkable irritability with severe feeding problems, which attributes significant difficulties to the parents of affected children.
Kawame H; Matsui M; Kurosawa K; Matsuo M; Masuno M; Ohashi H; Fueki N; Aoyama K; Miyatsuka Y; Suzuki K; Akatsuka A; Ochiai Y; Fukushima Y
American Journal of Medical Genetics Part A
2003
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ajmg.a.10236" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.10236</a>
Behavioral and temperamental features of children with Costello syndrome
Male; Child Behavior; Child; Humans; Female; Child Preschool; Syndrome; Linear Models; Abnormalities Multiple/px [Psychology]; Temperament; Abnormalities Multiple/ge [Genetics]; Abnormalities Multiple/pa [Pathology]; Aggression/px [Psychology]; Developmental Disabilities/pa [Pathology]; Face/ab [Abnormalities]; Growth Disorders/pa [Pathology]; Juvenile Delinquency/px [Psychology]; Shyness; behavioral problems; Costello syndrome; trajectory; characteristics; internalizing problems
Costello syndrome (CS) is a rare genetic condition due to germline mutations in HRAS proto-oncogene and characterized by increased birth weight, postnatal growth retardation, distinctive facial appearance, typical medical problems (including feeding problems in the neonatal period), cutaneous anomalies, and developmental delay. Outgoing personality has often been noted in case reports, but few studies have focused specifically on the behavioral aspects of CS. A preliminary survey described irritability in younger patients with improvement between age 2 and 4, but a standardized psychometric tool was not used. A second study using the Child Behavior Checklist (CBCL) showed relatively high (albeit subclinical) levels of internalizing problems. These descriptive investigations lacked a control group. We describe a comparative survey to evaluate the behavioral and temperamental features of children with CS. We conducted a cross-sectional assessment using the CBCL and the Emotionality, Activity, Shyness, Sociability (EAS) temperament questionnaire to evaluate behavior and temperament in 11 CS children (2 years 5 months to 9 years) comparing them to 33 gender- and age-matched children without disability. The results suggest that the high levels of internalizing problems found before age 4 in CS patients might decrease with age. They also point to possible "hyperemotionality." Further studies using a larger sample size and IQ-matched control groups are needed to more accurately characterize individuals with this rare syndrome.Copyright 2006 Wiley-Liss, Inc.
Galera C; Delrue M A; Goizet C; Etchegoyhen K; Taupiac E; Sigaudy S; Arveiler B; Philip N; Bouvard M; Lacombe D
American Journal of Medical Genetics Part A
2006
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ajmg.a.31169" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.31169</a>
Orthopedic manifestations and implications for individuals with Costello syndrome
tone and motor problems; Costello syndrome; trajectory; characteristics; orthopedic manifestations
Costello syndrome is a rare genetic condition caused by heterozygous alterations in HRAS and characterized by multi-system abnormalities. Individuals with Costello syndrome usually present with severe feeding difficulties in infancy, short stature, coarse facial features, increased tumor risks, cardiac and neurological complications, intellectual disability and orthopedic complications. This study further defines the orthopedic manifestations affecting individuals with Costello syndrome. We studied 43 participants and performed medical records review, clinical examinations and orthopedic inquiry forms. In 23 participants, hip and or spinal imaging assessments were completed. Serial radiographs were analyzed when available. A total of 25 orthopedic manifestations were identified. Ten manifestations were seen in the majority of the participants: hypotonia (87%), ligamentous laxity (85%), scoliosis (63%), kyphosis (58%), characteristic hand deformities (85%), ulnar deviation of the wrist (63%), elbow (55%) and shoulder contractures (65%), tight Achilles tendon (73%), and pes planus (53%). Other characteristics of special note were hip dysplasia (45%), foot deformities requiring surgical intervention (38%) and osteopenia/osteoporosis (47%). We also studied the development of the hips and spine. Uni- or bilateral hip dysplasia was congenital in some, while it developed throughout childhood in others. Spinal involvement included scoliosis, kyphosis, lordosis, and curvature reversal (thoracic lordosis and lumbar kyphosis). Based on these findings, we recommend routine referral to an orthopedic surgeon as well as instituting screening protocols for hips and spine for individuals with Costello syndrome.Copyright © 2013 Wiley Periodicals, Inc.
Detweiler S; Thacker M M; Hopkins E; Conway L; Gripp K W
American Journal of Medical Genetics Part A
2013
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ajmg.a.36047" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.36047</a>
Longitudinal Course of Cognitive, Adaptive, and Behavioral Characteristics in Costello Syndrome
cognitive; Genetics & Heredity; phenotype; features; functioning; HRAS; longitudinal assessment; MAP kinase pathway; p.G12A; p.G12S; p.G13C; p.T581; behavioral; tone and motor; costello syndrome; trajectory; characteristics; disability
Costello syndrome is a rare rasopathy caused by germline mutations in the oncogene HRAS resulting in increased signal transduction through the Ras/mitogen-activated protein kinase pathway. In contrast to the more common rasopathies, such as neurofibromatosis type 1 and Noonan syndrome, limited information is available on standardized cognitive testing in this cohort. Past research indicated a mean average IQ in the mild mental retardation range, with strengths in fluid reasoning (FR) and weakness in expressive language, as well as static skills over time. Here we report on standardized IQ and adaptive functioning in 18 individuals with Costello syndrome, nine males and nine females, and longitudinal development for 11 who had previous testing. The overall IQ, ranging from severe mental retardation to the average range, with a mean in the mildly mentally retarded range, was again found to be stable, but an interesting pattern in the development of nonverbal FR was identified. Participants showed an improvement in nonverbal FR, followed by stable skills thereafter, suggesting a "late bloomer" effect in late childhood/early adolescence. Overall adaptive functioning fell into the range of Intellectual Disability for 70% of subjects, with Socialization as a relative strength and Daily Living Skills an area of relative difficulty. Interestingly, females were found to be higher functioning than males in all domains, including Communication, Daily Living Skills and Socialization. Caregivers reported significantly more behavioral concerns in males, including internalizing, externalizing, and other maladaptive behaviors. In contrast, no gender differences were found in cognitive or visuomotor functioning. (C) 2009 Wiley-Liss, Inc.
Axelrad M E; Schwartz D D; Fehlis J E; Hopkins E; Stabley D L; Sol-Church K; Gripp K W
American Journal of Medical Genetics Part A
2009
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ajmg.a.33126" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.33126</a>