Degree of ventriculomegaly predicts school-aged functional outcomes in preterm infants with intraventricular hemorrhage.

BACKGROUND: Greater ventriculomegaly in preterm infants with intraventricular hemorrhage (IVH) has been associated with worse neurodevelopmental outcomes in infancy. We aim to explore the relationship between ventriculomegaly and school-age functional outcome. METHODS: Retrospective review of preterm infants with Grade III/IV IVH from 2006 to 2020. Frontal-occipital horn ratio (FOHR) was measured on imaging throughout hospitalization and last available follow-up scan. Pediatric Cerebral Performance Category (PCPC) scale was used to assess functional outcome at ≥4 years. Ordinal logistic regression was used to determine the relationship between functional outcome and FOHR at the time of Neurosurgery consult, neurosurgical intervention, and last follow-up scan while adjusting for confounders. RESULTS: One hundred and thirty-four infants had Grade III/IV IVH. FOHR at consult was 0.62 ± 0.12 and 0.75 ± 0.13 at first intervention (p < 0.001). On univariable analysis, maximum FOHR, FOHR at the last follow-up scan, and at Neurosurgery consult predicted worse functional outcome (p < 0.01). PVL, longer hospital admission, and gastrotomy/tracheostomy tube also predicted worse outcome (p < 0.05). PVL, maximum FOHR, and FOHR at consult remained significant on multivariable analysis (p < 0.05). Maximum FOHR of 0.61 is a fair predictor for moderate-severe impairment (AUC 75%, 95% CI: 62-87%). CONCLUSIONS: Greater ventricular dilatation and PVL were independently associated with worse functional outcome in Grade III/IV IVH regardless of neurosurgical intervention. IMPACT: Ventriculomegaly measured by frontal-occipital horn ratio (FOHR) and periventricular leukomalacia are independent correlates of school-age functional outcomes in preterm infants with intraventricular hemorrhage regardless of need for neurosurgical intervention. These findings extend the known association between ventriculomegaly and neurodevelopmental outcomes in infancy to functional outcomes at school age. FOHR is a fair predictor of school-age functional outcome, but there are likely other factors that influence functional status, which highlights the need for prospective studies to incorporate other clinical and demographic variables in predictive models.

Breast Health Experiences in Women with Cerebral Palsy: A Qualitative Approach.

Background: All women, regardless of disability status, should receive screening for breast cancer. In 2010, only 61.4% of women with disabilities (WWD) received a mammogram in the past 2 years compared to 75% of women without disabilities. The purpose of this study is to explore breast cancer screening experiences of women with cerebral palsy (CP) with the aim of identifying factors that could improve screening rates for WWD. Methods: Thirty women with CP, 22-72 years of age, residing in New York, Chicago, or Los Angeles areas participated in individual or group interviews about breast health. Twenty-five of the participants identified themselves as white, and one self-identified as Hispanic or Latina. Facilitators used a semistructured guide across the three sites. Qualitative analysis utilized an iterative coding process to generate themes related to breast health. Results: We identified six predominant themes in these interviews, which revolved around physical, environmental, and emotional barriers and facilitators. Within each theme, we identified subthemes. Physical barriers included the most highly identified subthemes of age, pain, holding breath, holding still, spasticity, standing, fatigue, and positioning. Self-advocacy and communication between the health care professional and the patient were the most common subthemes identified among the emotional facilitators. Conclusion: Women with CP perceive a variety of issues impacting breast health. These findings are multifaceted and suggest that improving screening rates for women with CP should address these barriers and facilitators.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

PURPOSE: In this study we investigate the disease etiology in 12 patients with de novo variants in FAR1 all resulting in an amino acid change at position 480 (p.Arg480Cys/His/Leu). METHODS: Following next-generation sequencing and clinical phenotyping, functional characterization was performed in patients' fibroblasts using FAR1 enzyme analysis, FAR1 immunoblotting/immunofluorescence, and lipidomics. RESULTS: All patients had spastic paraparesis and bilateral congenital/juvenile cataracts, in most combined with speech and gross motor developmental delay and truncal hypotonia. FAR1 deficiency caused by biallelic variants results in defective ether lipid synthesis and plasmalogen deficiency. In contrast, patients' fibroblasts with the de novo FAR1 variants showed elevated plasmalogen levels. Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production. CONCLUSION: Heterozygous de novo variants affecting the Arg480 residue of FAR1 lead to an autosomal dominant disorder with a different disease mechanism than that of recessive FAR1 deficiency and a diametrically opposed biochemical phenotype. Our findings show that for patients with spastic paraparesis and bilateral cataracts, FAR1 should be considered as a candidate gene and added to gene panels for hereditary spastic paraplegia, cerebral palsy, and juvenile cataracts.

The association of hepatoblastoma, prematurity and cerebral palsy: Case reports.

PURPOSE: Hepatoblastoma is the most common primary liver tumor in children and has a greater incidence in children with a history of prematurity and very low birth weight. To increase awareness of the association between prematurity and hepatoblastoma for health care providers who treat children with Cerebral Palsy (CP), we present two case reports. METHODS: Two case reports of premature, very low birth weight infants with hepatoblastoma are described and a literature review of hepatoblastoma in the setting of prematurity and cerebral palsy is performed. RESULTS: Each patient had a history of 26-28 week prematurity, very low birth weight, and CP. Both presented with worsening constipation and abdominal distension that did not respond to oral medications. Appropriate referrals to the ER were made which lead to a diagnosis of hepatoblastoma. Pediatric rehabilitation was a source of referral for diagnosis in one patient and aided in the rehabilitation course following treatment for both patients. CONCLUSIONS: Hepatoblastoma is the most common primary liver tumor in children and has an increased incidence in children with a history of prematurity and very low birth weight. Providers who frequently care for the very low birth weight and premature children with CP should be aware of this correlation and include hepatoblastoma in the differential when managing patients with suddenly worsening constipation or abdominal distension. Pediatric physiatrists and other providers for these patients could be a source of referrals and diagnosis leading to timely treatment.

Breast cancer screening in women with cerebral palsy: Could care delivery be improved?

BACKGROUND: Women with disabilities (WWD) have reported lower mammography rates than the general population, however rates for women with cerebral palsy (CP) have not been specifically studied. OBJECTIVE: To evaluate mammography rates in women with CP and to identify strengths and barriers with their screening experience. METHODS: Women with CP 40 years or older (n = 118) participating in a prospective cross-sectional survey were queried regarding screening status, imaging modality, and accommodation needs and availability. Categorical variables were summarized and Chi-square testing used to assess factors contributing to screening compliance. The effect of functional factors on screening was evaluated using logistic regression. RESULTS: 77 women (65.3%) had mammograms within the past two years; 56 (47.5%) were screening mammograms. Severity of fine motor deficits was associated with lack of screening (OR 0.559, p = 0.019). 85 (72.0%) experienced positive staff attitudes. Facilities most often met needs for ramps, elevators, and/or wide doorways (92.9%), exam explanations (84.4%), and accessible parking (82.5%). Needs least often met included accommodations for standing (59.3%) or for difficulties with arm/shoulder positioning (57.1%), and wheelchair-accessible mammogram machines (59.1%). CONCLUSIONS: The screening compliance rate for women with CP is low, although the 2-year mammography rate is comparable to that reported for WWD and the general female U.S. POPULATION: Women were usually offered respectful care. Adequate physical accommodations during the procedure were reported less often than overall facility environmental accommodations. These findings demonstrate the need for improved screening rates in women with CP, and highlight areas for improving their screening experience.

Functional outcomes of childhood dorsal rhizotomy in adults and adolescents with cerebral palsy.

OBJECT: In this descriptive study the authors evaluated medical outcomes, interventions, satisfaction with life, and subjective impressions about selective dorsal rhizotomy (SDR) in older adolescents and adults who had undergone the procedure as children. METHODS: A survey was administered to older adolescents (16-20 years old) and adults with CP who had undergone SDR between 1986 and 2000 at two academic centers. The patients or their caregivers participated in telephone or clinic interviews. Subjective impressions about the SDR and a history of post-SDR medical interventions were obtained. Current functional status, history and ratings of pain, educational achievement, living situation, and subjective health status were also recorded. The Diener Satisfaction with Life Scale (SWLS) was administered. RESULTS: Eighty-eight participants, mean age 25.6 ± 4.8 years (mean ± standard deviation), were interviewed at a mean of 19.6 ± 3.0 years after surgery. The distribution of current reported Gross Motor Function Classification System levels was as follows: I, 7%; II, 18%; III, 23%; IV, 36%; and V, 16%. Moreover, 56% of respondents were living with parents and 25% were living alone. Thirty-five percent were employed, and 39% were still in school. The mean overall SWLS score was 26.0 ± 7.3, indicating a high level of satisfaction with life. According to 65% of the patients, the SDR was helpful; 31% were uncertain about the procedure's efficacy. Sixty-five percent would recommend the procedure to others. Fifty-eight percent reported excellent to very good health. Forty-four percent reported pain in the past week. Fifty-one percent reported chronic back pain in general. Logistic regression analysis suggested that an increased satisfaction with life was a predictor (p = 0.01) of an affirmative response to the question about recommending the procedure to others and that better overall health showed a trend toward being such a predictor (p = 0.08). Additional interventions were frequently performed after the SDR. Seventy-four percent of participants underwent orthopedic surgery. Thirty-eight percent were currently taking oral medications for tone, and 53% had received botulinum toxin injections for spasticity treatment. Thirteen patients (15%) had an intrathecal baclofen pump placed. CONCLUSIONS: The majority of adults who had undergone SDR as children would recommend the procedure to others. Very few reported negative impressions of the procedure. Levels of satisfaction with life were generally high. Pain prevalence was similar to what has been reported in the literature for adults with cerebral palsy. Despite the SDR, further interventions, both surgical and nonsurgical, were used in the majority of patients.

Effects on motor development of kicking and stepping exercise in preterm infants with periventricular brain injury: a pilot study.

BACKGROUND: Preterm infants with periventricular brain injury (PBI) have a high incidence of atypical development and leg movements. OBJECTIVE: Determine whether kicking and treadmill stepping intervention beginning at 2 months corrected age (CA) in children with PBI improves motor function at 12 months CA when compared with control subjects. METHOD: In a multi-center pilot study for a controlled clinical trial, sixteen infants with PBI were randomly assigned to home exercise consisting of kicking and treadmill stepping or a no-training control condition. Development was assessed at 2, 4, 6, 10, and 12 months CA with the Alberta Infant Motor Scale (AIMS). At 12 months children were classified as normal, delayed, or with cerebral palsy (CP). RESULTS: At 12 months CA 3 of 7 (43%) of the exercise group children walked alone or with one hand held versus 1 of 9 (11%) in the control group (p=0.262), but no significant differences in AIMS scores were found at any age. Half of the subjects had CP or delay; the outcomes of these infants were not improved by exercise. Compliance with the home program was lower than requested and may have affected results. CONCLUSION: Although not statistically significant with a small sample size, self-produced kicking and treadmill exercise may lower age at walking in infants with normal development following PBI, but improvements of the protocol to increase and document compliance are needed before a larger study is implemented.

Definition and classification of negative motor signs in childhood.

In this report we describe the outcome of a consensus meeting that occurred at the National Institutes of Health in Bethesda, Maryland, March 12 through 14, 2005. The meeting brought together 39 specialists from multiple clinical and research disciplines including developmental pediatrics, neurology, neurosurgery, orthopedic surgery, physical therapy, occupational therapy, physical medicine and rehabilitation, neurophysiology, muscle physiology, motor control, and biomechanics. The purpose of the meeting was to establish terminology and definitions for 4 aspects of motor disorders that occur in children: weakness, reduced selective motor control, ataxia, and deficits of praxis. The purpose of the definitions is to assist communication between clinicians, select homogeneous groups of children for clinical research trials, facilitate the development of rating scales to assess improvement or deterioration with time, and eventually to better match individual children with specific therapies. "Weakness" is defined as the inability to generate normal voluntary force in a muscle or normal voluntary torque about a joint. "Reduced selective motor control" is defined as the impaired ability to isolate the activation of muscles in a selected pattern in response to demands of a voluntary posture or movement. "Ataxia" is defined as an inability to generate a normal or expected voluntary movement trajectory that cannot be attributed to weakness or involuntary muscle activity about the affected joints. "Apraxia" is defined as an impairment in the ability to accomplish previously learned and performed complex motor actions that is not explained by ataxia, reduced selective motor control, weakness, or involuntary motor activity. "Developmental dyspraxia" is defined as a failure to have ever acquired the ability to perform age-appropriate complex motor actions that is not explained by the presence of inadequate demonstration or practice, ataxia, reduced selective motor control, weakness, or involuntary motor activity.

The use of botulinum toxin in pediatric disorders.

Botulinum toxins have an exciting and important role in treating the child with hypertonia. The guidelines presented in this article are those that have been published representing the safe use of botulinum toxins in children. Experience and a decade of research have provided the framework for using botulinum toxins in decreasing deformity and promoting function. In children, a window of opportunity exists with botulinum toxin that allows improved motor control and elongation of shortened muscles. Although 3 to 4 months in an adult life is short, for a child it is a relatively greater proportion of their life experience and may be long enough for skill development. The improvement noted in function after botulinum toxin use is facilitated by comprehensive rehabilitation. The pediatric physiatrist has a unique role in the management of children with cerebral palsy and other conditions with hypertonia. Their knowledge and training reflect an understanding of anatomy and development that allows accurate evaluation of specific functional problems in children related to hypertonia. The pediatric physiatrist has experience in localization of muscles by EMG, nerve stimulation, and surface anatomy. Although many other physicians inject botulinum toxins, goal-directed management is the cornerstone to the physiatrist's thinking and treatment plan. Orthopedic surgery ultimately may be the intervention of choice if persistent contracture or progression of contractures occurs. Working in collaboration with an orthopedist identifies the timing of optimal surgical intervention for alignment. For persistent and severe hypertonia, the treatment team includes a neurosurgeon. All options for spasticity, such as selective posterior rhizotomy and intrathecal baclofen, should be considered. Re-evaluation of the child after selective dorsal rhizotomy or intrathecal baclofen is appropriate and should be discussed with therapists for focal intervention. Communication between members of the team and the family is desirable and frequently is one of the major contributions of the pediatric physiatrist. For children with focal hypertonia, botulinum toxins offer a dramatic but temporary repeatable change that affects rehabilitation. Research rapidly has captured the positive effect of the toxins on impairment and functional limitations. Not to be overlooked are outcomes related to quality of life. The long-term use of botulinum toxins and the role the toxins play throughout the life span of the person with a childhood hypertonic disorder are yet to be determined.