Questions about these results or requests for additional information can be made by email to glasmacher@aicardisyndrome.org.
The diagnostic criteria define Aicardi syndrome as all three of the major criteria:
The journal article used more stringent inclusion requirements, and excluded six cases which are included here. Including or excluding these cases did not significantly change the results.
| Responses were received for children ranging in age from 5 months to 32 years. The average age of those in the study was 7.2 years with a median age of 5.2 years. [graph: Bar graph showing the age distribution and frequency of individuals included in the study] |
| Reported siblings range in age from less than 1 year of age to 40 years of age, with an average age of 12.0 years and a median age of 10.5 years. [graph: Bar graph showing the age distribution and frequency of the siblings of individuals included in the study.] The average number of children per family is 2.5, ranging from zero to seven. [graph: Bar graph showing the frequency of the number of children in the families in the study.] |
| Four percent of mothers (3/74) had no prenatal ultrasounds, 55% (41/74) had one, two, or three
ultrasounds, and the remaining 41% (30/74) had four or more ultrasounds.
In the general population, 3.6% of mothers receive no prenatal care.
(National Center for Health Statistics, final natality data, Kotelchuck M. An evaluation of the Kessner Adequacy of Prenatal Care Index and a proposed Adequacy of Prenatal Care Utilization Index. Am J Public Health 1994; 84: 1414-1420. Retrieved July 13, 2005, from www.marchofdimes.com/peristats.)
While the vast majority of respondents do reside in the United States, several respondents reside in countries for which the standard number of prenatal ultrasounds is three. [graph: A bar graph showing the number of ultrasounds during the pregnancies of study subjects with Aicardi syndrome.] Thirty-four percent (25/73) of mothers reported that the ultrasound showed an abnormality. This is a lower fraction of mothers than those reporting four or more ultrasounds, which might indicate that in some cases there were questionable ultrasound results being followed. [graph: A pie chart showing the distribution of ultrasound results of pregnancies affected by Aicardi syndrome, defined as normal or abnormal.] The most commonly reported abnormalities were enlarged ventricles or hydrocephalus, one or more cysts, and agenesis of the corpus callosum. Abnormal ultrasound results of all types were found between 4 and 9 months, with an average of 6.7 months. [graph: A pie chart showing the distribution of common abnormalities found on ultrasound results of pregnancies affected with Aicardi syndrome. ] Twenty-eight percent of mothers (21/73) reported some bleeding during pregnancy, primarily during the first trimester (21%). These numbers are on the high end of the normal range found in various sources. (Figures from 10% to 25% were found in various on-line sources.) This could be due to the well-established “reporting phenomenon” bias of surveys (studies have shown that individuals with a medical diagnosis or problem are more likely than people in the general population to remember a problem in the past when asked in a survey). [graph: Pie chart showing the distribution of vaginal bleeding during pregnancies affected with Aicardi syndrome.] |
|
Sixty-four percent of births (48/75) were vaginal deliveries, and 36% (27/75) were by Cesarean
section. This is a higher Cesarean section rate than the 26.1% experienced by the population at large in 2002. ( National Center for Health Statistics, final natality data. Retrieved July 13, 2005, from www.marchofdimes.com/peristats.)
[graph: Pie chart showing the method of delivery of pregnancies with Aicardi syndrome. ] Forceps were used in 8% of vaginal births (4/48) , and vaccuum extraction in 2% (1/48).
Complications were reported in 26% of pregnancies births (18/69)
but the only complications reported more than once were prematurity (2),
meconium in amniotic fluid or meconium aspiration (3), long, slow, or difficult labor
(5 mothers), exceptionally painful or uncomfortable pregnancies (2 mothers), gestational
diabetes (2 mothers),
and pre-eclampsia (2 mothers).
[graph: Pie chart showing the combined frequency of various birth complications.]
Gestational age at birth ranged from 32 to 42 weeks, with an average of 38.4 weeks. [graph: Bar graph showing the frequency of gestational age at delivery.] Seventeen percent of newborns (12/72) required oxygen at birth. [graph: Pie chart showing the percentage of children who needed supplemental oxygen at the time of delivery.] Forty percent of newborns (30/74) were exclusively breastfed, 22% (16/74) were exclusively bottle fed, and the remaining 38% (28/74) were both breast and bottle fed. [graph: Pie chart showing the percentage of newborns fed by breast, bottle, or both.] Fifty-seven percent of breastfed newborns (33/58) were reported to be excellent or good feeders, the remainder fair or poor. Poor or absent sucking reflex at birth was noted in three children. [graph: Pie chart showing how parents rated the ability of their newborns to breast-feed.] |
Data on the weight, length, and head circumference of newborns with Aicardi syndrome can be found in the journal article.
|
The first signs or symptoms of a problem were noticed by parents or physicians between
4 months gestation and 5 months after birth, with the majority of symptoms beginning
either at birth or at an age of 2-3 months.
(Note that 6 of the 62 families (10%) who reported their first suspicions of a
problem as being sometime after birth did have an abnormal ultrasound
result. These
results may not have been viewed as indicative of a problem
necessarily at the time.)
[graph: Bar graph showing the age when the first sign of Aicardi syndrome was noted. ]
Diagnosis came on average 2.7 months after the first signs or symptoms were noted (not including two children
who were diagnosed 8 and 16 years later), ranging from immediately
thereafter to almost 16 years later. Half of the children were diagnosed
within one month of the first suspicions of a problem, and 93% (68/73) were
diagnosed within 8 months.
[graph: Bar graph showing teh age-at-diagnosis of Aicardi syndrome]
|
On average, between two and three of the following were used to confirm diagnosis: CT scan, eye exam, EEG, MRI, ultrasound (brain). Eye exams were the most frequently used, at over 90%, which is not surprising given that they were a requirement for diagnosis, prior to the revision of the diagnostic criteria in 1999, and still remain the most specific hallmark of Aicardi syndrome. [graph: Bar graph showing the studies used in making the diagnosis of Aicardi syndrome. ] |
For example, the median age at which children in the survey learned to walk was 2.5 years. The percentage of children over the age of 2.5 who could walk is 31%. If we had instead looked at the percentage of all survey children who could walk, we would have counted many babies who are too young to walk in the group of children who cannot walk. Some of those babies will probably learn to walk later, and so the percentage would have been lower than reality. If we had chosen the age at which typical children learn to walk as our cut-off age, we would again have left out many children who will learn to walk, but will learn to do so later than their typically developing peers. However, we wanted to use the youngest reasonable cut-off age so that we could include as many children as possible.
Additional statistical information, including averages and standard deviations, can be found in the development appendix.
To view a distribution of the ages at which each milestone was accomplished, click the name of the milestone if graphs are not displayed, or look below the table if they are.
We report here only skills for which parents indicated an age of achievement. A larger number of children were reported as being able to walk than being able to stand independently. We are uncertain whether this reflects children who walk with support or an omission by parents of the age at which the child was able to stand independently. Many milestones were likely interpreted slightly differently by different parents.
An alternative way to examine the data is to compare the developmental age versus chronological age. We did not inquire into skills in sufficient detail to determine a true developmental age, but covered selected milestones up to 24 months developmental age for gross motor, 4 months developmental age in fine motor, and 21 months developmental age in oral motor. Children who have developed skills higher than these we asked about will appear to have a lower developmental age than they really have. We present information on developmental age not to suggest a true developmental age, but more as a way to compare and show developmental progress over time.
Note that the results may also be affected by any correlation between mortality and developmental level. For example, if children with higher developmental skills are more likely to survive to older ages, the average developmental level of the group as a whole will go up, even if children are not learning new skills at those ages. Any correlation between diagnosis and developmental level could also skew the results, if, for example, children who function at the highest levels seen with this syndrome are not diagnosed until later, or not diagnosed at all. The information presented herein should be viewed with these caveats in mind.
| Both the gross motor and fine motor graphs suggest developmental progress through the first 8-10 years of life, and then a leveling off. The fine motor questions were too limited to give a good assessment -- note the large number of children achieving the highest milestone included. [graph: Line graph of average gross motor skills versus chronological age.] [graph: Line graph of average fine motor skills versus chronological age.] [graph: Line graph of average oral motor skills versus chronological age.] |
Three parents reported a regression in skills due to illness, and two report improvement with better health. One reports regression with a lapse in therapy. Three reported children who had much more receptive than expressive language, and one reports specifically that the child recognizes her own name. Two reported children making great strides when taken off certain seizure medications. One reported successful potty training.
Puberty and menstruation are covered in the journal article.
A description of how developmental scores were calculated can be found under "Calculating Developmental Scores" in the statistical details. The developmental scores took into account both the skills accomplished and the ages at which those skills were met.
|
The most significant correlation with later
developmental level was the age of the child when the parents first
noticed a problem. (See "Pearson r values"
in the statistical details
for more information.) Seizure onset was the
first problem noted by parents in 70% of cases, and when examined against
developmental level, a significant correlation between later onset of
seizures
and better development is seen. (See "Pearson r values"
in the statistical details
for more information.) In both cases, the correlation is not very
strong -- the highest development scores were found in children who
developed seizures after they were two months old, but many children
who developed seizures after the age of two months shared lower
developmental scores with their peers whose symptoms became apparent
at birth. So while it may be
possible to say that a child who develops symptoms later has a better
chance for higher developmental achievement, it is not possible to say
that a child who develops symptoms later will definitely have a higher
developmental achievement.
Many reports specifically mention children developing normally until the onset of seizures. Given that, the observation that seizure onset (or symptom onset) and eventual development are correlated only makes sense. A child who can develop normally for some period of time is at a clear developmental advantage over a child who cannot. [graph: Line graph of developmental score versus age at which first symptoms were noted.] [graph: Line graph of developmental score versus age at seizure onset.] |
Several other features correlated with development in a statistically significant way, but not strongly enough to be useful predictors alone. For example, the developmental scores for children with chorioretinal lacunae in only one eye were higher on average than the scores for children with chorioretinal lacunae in both eyes. However, the range of scores overlaps so much that the two children with the highest developmental scores have lacunae in both eyes. It isn't possible to make any kind of meaningful prediction about a child's developmental potential based on whether one or both eyes are affected by lacuane.
| Combining several features, however, does provide a stronger
correlation. For each child, a "feature score" was calculated as a way
of counting how many of the various features of the syndrome and other
related features were present. An explanation of the calculation can
be found under "Calculating
Feature Scores"
in the statistical details. The features chosen can typically be assessed
at the time of diagnosis or in the first few months of life,
and are: blindness, coloboma, chorioretinal
lacunae, polymicrogyria, microcephaly, complete (versus partial) agenesis
of the corpus callosum,hemivertibrae, and age at onset
of seizures.
The correlation between developmental score and feature score for children over the age of two is shown in the graph. (Children under the age of two were not included as they are more likely to still be in the process of developing some of these skills, and could confuse the results.) There is a clear and statistically significant correlation. (See "Pearson r values" in the statistical details for more information.) Again, the predictive power is limited. Children with a very low feature score have the best chance at the highest developmental scores, but even children with very low feature scores are observed with low developmental scores. [graph: Line graph of developmental score versus feature score.] |
Because information both about clinical features and development comes from parent reports, there are several possible sources of error. Many of the clinical features are brain MRI findings of which parents are more likely to be unaware due to their technical nature. Twenty-four families did not answer one or more of the seven feature-related questions (only one family left more than two questions unanswered). While excluding these families did not significantly change the results, the results would be inherently more accurate if we had access to complete and objective information. The determination of the existance or non-existance of various brain and eye malformations may vary between the different physicians counseling individual patients. Parents may also be defining the acquisition of different milestones differently, with some reporting the first day on which a milestone was possibly met, and other reporting mastery of the milestone. Eliminating some of these variables would presumably reduce some of the uncertainty in the correlation between features and development, though it is impossible to be certain without actually examining this relationship in a more controlled way.
Other statistical techniques were attempted, and summarized under "Other Techniques" in the statistical details. These techniques, in contrast to the one used above, attempt to account for which specific abnormalities are present and in what combination. These techniques did not provide results as useful as simply counting the number of abnormalities, suggesting that the number of abnormalities is more important in determining eventual development than which abnormalities those are. It is logical that children with more brain, eye, and skeletal abnormalities would on average be more severely affected, and likely meet fewer milestones.
Developmental score was compared against the use of various seizure medications. The only medication with an even marginally significant correlation to development was lorazepam, and the correlation was far from strong enough to suggest that lorazepam is helpful for furthering development.
The only two types of seizures which correlated with developmental ability were atonic/drop seizures, and emotional/aura seizures. Both of these were seizure types associated with higher developmental status, presumably as these are types of seizures more likely to be noted in a child who had developed more advanced skills. All subjects who reported one or both of these seizure types reported other types of seizures in addition to these.
Parents were asked to list the three most helpful and three least helpful medications,
taking side effects into consideration. Medications that are used primarily for infantile spasms are overrepresented, as expected due to the frequency of infantile spasms in Aicardi syndrome and the relatively young mean and median age of affected children. The mixed benefits of all these medications for seizure control is suggested by the observation that those perceived as “most helpful” by the most families (vigabatrin, lamotrigine, topiramate, zonisamide), were perceived as “least helpful” by a smaller fraction of respondents. Interestingly, ACTH was rated very low among parents in this survey, in contrast with vigabatrin which received much more favorable ratings.
|
Seizure medications were rated on a five-point scoring system to grade the success of treatment as follows: 1=no help, 2=helped a little, 3=moderate help, 4=helped a lot and 5=complete seizure control. Seizure control is difficult to achieve in these children and, not unexpectedly, reported results were mixed. The medication that scored the highest, vigabatrin, still only received an average rating of 3.2 among 42 respondents. Overall, we could not discern any substantial difference in rated effectiveness for the highest-scoring 15 medications.
Compared to medications, such as vigabatrin, which was used in 42 of the children, only a small fraction of the respondents reported use of alternative treatments such as an implanted Vagus Nerve Stimulator VNS, but overall rating them favorably. The VNS and ketogenic diets had an average rating of 3.1, which is similar to vigabatrin (3.2) and lamotrigine (3.1), the two most highly rated medications. Although no families reported complete seizure control with the VNS, 11/14 (79%) rated this treatment in the "moderate help" or "helped a lot" categories, suggesting that VNS implantation is more beneficial than any of the medications or the ketogenic diet for seizures associated with Aicardi syndrome. Reported neurosurgical interventions included complete hemispherectomies in two children, cortical resection in one, partial hemispherectomy with corpus callosum resection in one and corpus callosum section in one. Reported benefits from these surgeries were mixed, and in one lasted only briefly. These results are not intended to replace information gathered from clinical trials, but to provide additional information about parent perceptions of seizure medications specificlaly for the Aicardi syndrome population. |
| In spite of reports by 50% of parents (36/71) that their children were very fragile or
weaker than average medically, 74% (55/74) reported that their children
were generally in good or excellent health.
This suggests that while many children have medical complications, those are
often well controlled to the point that the child can be considered healthy.
[graph: Pie graph showing parents’ overall impression regarding their child’s medical condition] [graph: Pie graph showing parents' overall impression regarding their child's health] In the year prior to reporting, 43% of children (32/74) had spent some time in the hospital. Those who had spent time in the hospital for acute illness typically spent 10 or fewer days that year, though longer stays (up to 80 days) were reported. [graph: Bar graph showing the frequency of days spent in the hospital for acute illness during the twelve months prior to reporting.] Overall, children spent many fewer days in the hospital for surgeries, with the longest period of time being 16 days. [graph: Bar graph showing the frequency of days spent in the hospital related to surgery during the twelve months prior to reporting.] The longest 3 hospital stays were all in children under 3 years of age, and the average number of days spent in the hospital was lower for older children than younger. [graph: Line graph showing the average number of days spent in the hospital by the age of the child for both surgery and acute illness.] While 24% of respondents (17/71) had avoided visiting the doctor for acute illnesses over the twelve months prior to reporting, most had made one or more visits. [graph: Bar graph showing the frequency of doctor visits for acute illness over the twelve months prior to reporting.] Forty-five percent of children (33/73) had made at least one visit to the emergency room in the twelve months prior to reporting, and some had made as many as five visits. [graph: Bar graph showing the frequency of visits to the emergency room during the twelve months prior to reporting] On average, visits to the doctor and the emergency room were less frequent in children over the age of ten that those under the age of 10. [graph: Line graph showing the average number of doctor and emergency room visits by the age of the child in the twelve months prior to reporting.] Over the entire lives of the children reporting, the average number of hospital stays per year is two, ranging from zero to five stays per year. The average hospital stay was 6 days and the median was 4 days. [graph: Bar graph showing the average number of days per hospitalization.] Fewer than half of children had made more than one emergency room visit for every two years of life, though the average number of emergency room visits per year is 1.2. [graph: Bar graph showing the average number of visits to the emergency room per child per year.]
|
| The percentage of children eating orally initially declines with age until
between the ages of 7 and 9, at which point this percentage rises. The initial
decline in oral feeding is likely due to feeding tube placements. However the
rise again
in percentage of oral feeders after the age of 9
could be attributed to greater mortality
in children who are tube
fed versus those who are fed orally or more g-tubes being placed
within the last 10 years as opposed to the 10 years prior to that.
There were no reports of permanent
feeding tube removal nor reports of tube fed children reverting entirely to
oral feedings.
[graph: Bar graph showing the percentage of children eating orally, by feeding tube, or both as a function of age.] When asked to rate how well feedings had gone on a scale of 1 to 4 (1=poor,
2=fair,3=good,4=excellent) at a selection of ages,
parents gave tube feedings higher marks on average
than oral feedings. In both cases, the ratings improved slightly as children
reached the ages of five to thirteen.
[graph: Line graph showing the average rating of feeding success orally or by feeding tube as a function of age.] Children who are or have been oral feeders were able to eat a variety of consistencies. Thin liquids, thick liquids, strained foods, and solid foods were all tolerated by over 60% of children (41 to 46 of 68 children). Crunchy foods were tolerated by the smallest percentage (32%, 22/68). [graph: Bar graph showing various food textures and how frequently they were tolerated.] |
Pediasure was used at some time by 76% of tube-fed children (19/25). While Pediasure was by far the most commonly mentioned formula fed to children by g-tube, many other formulas were mentioned, including Peptamin, KinderCal, Ensure, Nutren, Carnation Instant Breakfast, Ross Carbohydrate Free, Compleat, Nutrison, Boost, Deliver, Promote, Vivonex and a home-blenderized diet. (Many of these were used in their pediatric formulations.) Infant formulas (Enfamil and Nutramagen) as well as breastmilk were also used. Aside from Peptamen (used by 4 children), KinderCal (used by 3), and the infant formulas, the formulas were used by only one or two children. Pediasure and infant formulas were the most commonly listed as the formula which had worked best, though many other formulas (Peptamen, Compleat, Deliver, Ensure, Nutren, Promote, and Vivonex) were also mentioned.
Vitamin and nutritional supplement use was common. Twenty-three respondents use multi-vitamins daily, and eight use a B-complex or B6 vitamin as well. Six children are reportedly taking fluoride. Supplements reported by two children include: calcium, cod liver oil, taurine, vitamin C, and probiotics.
There were four reports of milk allergies, and two of those suggest milk in their daughter's diet increases seizure activity. Many families report children who eat well, and some report fussy eaters.
| Half of responding children (36/72) have been dehydrated, with 10% (7/72) having more than 5 episodes. All but one had required IV fluids for rehydration at least once. [graph: Pie graph showing the frequency of dehydrations episodes.] |
| Those who received permanent feeding tubes (g-tubes, gj-tubes, and j-tubes)
received them between the ages of one month and 16 years. Half of the
tubes were placed before the age of two and 76% before the age of four
years.
There were no reports of permanent feeding tube removal.
[graph: A bar graph showing the frequency of ages at which a permanent feeding tube was placed.] Most non-permanent feeding tubes (NG tubes) were placed
before the age of one year (the earliest at three months, the latest at
13 years).
[graph: Bar graph showing the frequency of ages at which non-permanent feeding tubes were used.] NG tubes were kept for between 10 days and 14 months, with an average
of 2.8 months.
[graph: Bar graph showing the average length of time of use of non-permanent feeding tubes.] Approximately equal numbers of children required feeding tubes
for weight gain, reflux, and aspiration. Other reasons supplied
included dehydration, sedative effects of medication, inability to
eat, collapsing trachea, and the ketogenic diet.
[graph: Pie chart showing various reasons for feeding tube placement.]
Most children who underwent fundoplication surgery were able to
discontinue their reflux medications (11/17),
though some still required them.
[graph: Pie chart showing the frequency of reflux medications required after fundoplication surgery.]
|
The types of tubes used are covered in the journal article.
To assist with bladder emptying, one child has a vesicostomy (an opening from the skin surface of the lower abdomen directly into the bladder, used for catheterization). One child had hemolytic uremic failure as an infant and underwent a period of dialysis. One child, 5 years old at the time of reporting, has small cystic structures in each of her kidneys, but no problems have developed as a result. A few families mentioned that their child voids infrequently.
| [graph (frequency of cold feet)] [graph (frequency of warm feet)] [graph (frequency of cold hands)] [graph (frequency of warm hands)] [graph (frequency cold face)] [graph (frequency of warm face)]
|
| Difficulting tolerating warm or hot weather (78%, or 58/74) was reported more frequently than difficulting tolerating cold weather (54%, or 40/74). [graph: Pie graph showing ability to tolerate cold weather.] [graph: Pie graph showing ability to tolerate hot weather.] |
Most children's temperature was reported to run about normal. Only a few reported temperatures regularly running higher than normal, but many reported temperature which ran a little below normal.
Echocardiograms were reported for three children. Two were normal, 1 showed mitral valve prolapse. One fetal echocardiogram was reported as normal. Two ultrasounds were reported as normal. One EKG was reported as abnormal is suspected to be related to ribcage abnormalities as opposed to heart problems. (Five other families reported abnormal EKGs, but provided no additional details, and we speculate that in at least some cases, respondents misread EKG as EEG.)
The color combination black and white and the combination red and yellow were most often reported as the colors best seen by the child. Bright colors and red were often cited individually. Light colors, pastels, and low contrast colors were most often mentioned as the hardest to see.
Slightly more respondents reported the area of best vision in the periphery than in the center (14 versus 12). The numbers reporting better vision in the left and those reporting better vision in the right were nearly equal (11 in the right and 12 in the left). Six respondents each reported the best vision to be up or down. Two reported no preferential areas, and three weren't sure. The most two most common specific areas reported as the best for vision were center and down (three reports), and up and to the right (four reports). By contrast, no reports were made of good vision center and up, nor of up and to the right.
When asked about areas of worst vision, the results were essentially opposite of the areas of best vision. Slightly more respondents reported bad central vision than peripheral (five versus three). The same number reported poor vision to the left as to the right (eight for each). Five reported poor vision down versus three up. Two reported no areas of poor vision, and eight reported they were unsure.
| Thirty-two percent (22/69) reported that the child wears glasses. One family reported gains in development coincident with acquiring glasses, and another reported no change. Two children reportedly have perfect or excellent vision in spite of lacunae. [graph: Pie graph showing the percentage of children requiring glasses.] |
| Sensitivity to noise was reported in 18% (12/66), and some
families reported seizures triggered by noise.
[graph: Pie graph showing frequency of sensitivity to noise.] Repeated ear infections were reported by 30% (21/70)
[graph: Pie graph showing frequency of repeated ear infections.] and ear tubes by 17% (12/70).
[graph: Pie bgraph showing frequency of ear tube placement.]
|
|
The average amount of time children spent sleeping at night did not
change significantly with age. Night-time sleep of between
one and fourteen hours was reported, with most children sleeping
between 8 and 10 hours per night. More than half of respondents
reported a range of sleep durations, such as 8-9 hours per night. To
better reflect what this means in terms of frequency of various
sleep durations, each range was recorded fractionally. Thus,
a range of 8-9 hours would've been recorded as 1/2 for 8 hours
and 1/2 for 9 hours.
[graph: Bar graph showing frequency of night-time sleep duration.]
Total daily nap durations of between zero and 10 hours were reported. (Ranges were handled as for nighttime sleep. See above.) Four parents noted the child taking short 5-15 minute naps several times per day. [graph: Bar graph showing frequency of nap sleep duration.] Twenty-six percent (19/72) children were reported to have daily trouble sleeping, and over half (48/72) reported trouble sleeping at least once per month. [graph: Pie chart showing frequency of sleep difficulty.] Twenty-six percent (19/73) report using sleep medication monthly or more often, and 60% (40/72) never use sleep medication. [graph: Pie chart showing frequency of sleep medication use.] Respondents were asked to rate any medications used to help the child sleep on the following scale: 1=no help, 2=some help, 3=moderate help, 4=helped a lot, 5=complete help. Melatonin, rated by 12 families, received an average rating of 3.5. [graph: Bar graph showing parent ratings of melatonin use for sleep difficulty.] Benadryl and other antihistamines, rated by 11 families, received an average rating of 3.3. [graph: Bar graph showing parent ratings of antihistamine use for sleep difficulty.] |
| medication | number of families rating | average rating |
| lorazepam | 3 | 2.7 |
| clonazepam | 3 | 4 |
| acetaminophen | 2 | 4 |
| clonidine | 2 | 3 |
| chloral hydrate | 2 | 3.5 |
| phenargen | 1 | 4 |
| diazepam | 1 | 4 |
| Ambien | 1 | 2 |
| phenobarbital | 1 | 2 |
|
Over half of children (50/71) visit the dentist at least once per year.
The oldest children reported never to have visited the dentist were four years old,
though most were two and under. Two reported that the child's first
dentist visit was scheduled for the near future.
[graph: Pie chart showing frequency of dental visits.] Thirty percent of respondents reported missing teeth (21/69), though it
was unclear in most cases whether this was normal primary tooth loss
or congenitally missing teeth. Two families specifically mentioned
primary tooth loss, and two specifically mentioned congenitally absent
teeth.
Abnormal amounts of tooth decay were reported in a few children (10/70), and in one case was attributed to medications. [graph: Pie chart showing frequency of excessive tooth decay.] More than half of children were able to tolerate dental exams without sedation. [graph: Pie chart showing frequency of sedation required for dental examinations.] A larger percentage required sedation (in addition to any local anesthesia) for dental work such as fillings, though the high percentage of parents that were uncertain whether sedation was necessary makes interpretation of this data difficult.. [graph: Pie chart showing frequency of sedation required during dental work such as fillings.]
Most children (40/62 or 65%) are reported to grind their teeth (bruxism) at least some of the time.
In many cases (15/40 or 38%) parents were unsure why the child grinds her teeth.
The most common explanations were seizures (6), stress (5),
illness (3), anger and frustration (3), hunger (2),
teething (2), pain (2), and self-stimuation (2). (Multiple answers
were allowed, so these numbers reflect 40 children, but 45 total
answers.)
|
Wheelchairs, adaptive strollers, adaptive chairs, standers, adaptive tricycles and bath chairs received the highest ratings in terms of usefulness in mobility and adaptation to the physical environment.
Computer touch screens, (with or without voice output) were reported to be the most useful modalities to assist communication.
Other equipment mentioned by a few families, but not frequently enough to make rating possible, included:
| Equipment | Average Rating | Number of Families Who Rated |
| Early intervention | 3.8 | 69 |
| Private Play group | 3 | 9 |
| Day care center | 3.8 | 13 |
| Day care in someone else's home | 3 | 11 |
| Private day care provider in your home | 4.7 | 20 |
| No school (meaning no public, private, or home schooling) | 4 | 3 |
| Home school | 3.8 | 7 |
| Private school | 5 | 4 |
| Public school | 3.9 | 41 |
| Full inclusion at school | 3.3 | 8 |
| Special classroom at school | 3.9 | 33 |
| Part special classroom, part inclusion at school | 4.1 | 15 |
| Bused to school | 4.3 | 36 |
| Scouting | 5 | 2 |
| Sports | 4.3 | 8 |
| Other extracurricular activities (please describe below) | 4.6 | 6 |
| Physical therapy (school) | 3.5 | 52 |
| Physical therapy (private) | 4.3 | 45 |
| Occupational therapy (school) | 3.5 | 51 |
| Occupational therapy (private) | 4.1 | 38 |
| Speech therapy (school) | 3.1 | 42 |
| Speech therapy (private) | 3.6 | 37 |
| Music therapy (school) | 4 | 18 |
| Music therapy (private) | 3.8 | 12 |
| Hippotherapy (horseback riding therapy) | 4 | 23 |
| Aquatic therapy (water or swimming therapy) | 4.1 | 34 |
While the small number of parents whose children were in private school rated it the highest (5/5 n=4) of the educational settings, the majority of girls with Aicardi syndrome are in public schools and parents gave the public schools an overall favorable rating (3.9/5 n=41).
With regard to the school classroom setting, all special classroom setting and regular classroom with occasional special classroom help were rated higher than full inclusion (all regular classes). The majority of girls with Aicardi syndrome get to school on a bus and parents reported being pleased with this mode of transportation to school.
Parents rated private therapy services (including physical, occupational, speech and music therapies) as better than those received through the school system.
A variety of other activities were reported, included
A summary of challenges reported by at least 2 families is below. This does not necessarily reflect the rate of occurrence of these in the Aicardi syndrome population, but their impact as perceived by caregivers.
| Medical Challenge | Number of families listing |
| Seizures/spams | 22 |
| Respiratory | 18 |
| Weight gain/feeding | 9 |
| Scoliosis | 7 |
| Reflux | 5 |
| Hip problems | 4 |
| Constipation | 3 |
| General illness | 3 |
| Shunts and their malfunction | 3 |
| Finding good physicians | 3 |
| Eyes/glasses | 3 |
| High tone (hypertonia) | 3 |
| Menses | 2 |
| Developmental progress | 2 |
| Allergies | 2 |
| Orthopaedic surgery | 2 |
| Circulatory problems | 2 |
| Dental | 2 |
| Digestion | 2 |
| Unexplained discomfort | 2 |
| Low tone (hypotonia) | 2 |
| Kidney or urinary problems | 2 |
| Sleep problems | 2 |
When asked to list the 3 top medical strengths their child possessed, general good health, including a strong immune system, was by far the most common response, reported by 36 families. Eating orally, weight gain, and growth were the second most commonly reported (15 families), followed by 11 families reporting qualities of the children such as a good attitude and a strong will.
A summary of medical strengths reported by at least 2 families is below.
| Medical strengths | Number of families listing |
| Good general health/good immunity | 36 |
| Eating orally, weight gain, and growth | 15 |
| Good attitude, strong will | 11 |
| Developmental ability | 7 |
| Strong lungs | 6 |
| Strong heart | 6 |
| Vision | 5 |
| Good physicians | 4 |
| Reponds well to medication | 3 |
| Strong skin | >3 |
| Tracheostomy | 3 |
| High pain tolerance | 3 |
| Hearing | 2 |
| Good cough | 2 |
| No orthopaedic issues | 2 |
| Resilient to seizures | 2 |
Developmentally, the most commonly cited challenges were gross motor skills (36 reports), followed closely by communication skills (31 reports). Various fine motor skills accounted for 19 reports. Communication challenges covered the entire range from children who are completely non-verbal to those who have limited communication in need of improvement, and including those using alternate forms of communication.
Challenges reported by at least two families are listed below.
| Developmental Challenge | Number of Families Listing |
| Communication | 31 |
| Mobility | 14 |
| Grasping/hand usage | 11 |
| Global delays | 8 |
| Low tone | 7 |
| Head control | 6 |
| Vision | 6 |
| Sitting | 6 |
| Weight bearing through legs | 5 |
| Seizure control | 5 |
| Feeding | 6 |
| Behavior, discipline, understanding consequences | 4 |
| General gross motor | 4 |
| Potty training | 4 |
| Self care/hygiene | 3 |
| Weight bearing through arms | 2 |
| General fine motor | 2 |
| Finding therapeutic services | 2 |
| High tone | 2 |
| Rolling | 2 |
| Voluntary movement | 2 |
| Balance | 2 |
| Attention span | 2 |
Interestingly, social skills were the most mentioned developmental strength, followed by a happy personality and determination. Smiles were specifically mentioned as well. A summary of developmental strengths mentioned by at least two families is below.
| Developmental Strength | Number of Families Listing |
| Social skills | 16 |
| Happy personality | 13 |
| Determination | 11 |
| Cognition, memory, and learning | 10 |
| Non-verbal communication | 9 |
| Sitting | 8 |
| Eating and feeding | 7 |
| Head control | 6 |
| Smile | 6 |
| Verbal communication | 6 |
| Receptive language | 5 |
| Easily motivated | 5 |
| Walking | 5 |
| Good therapists, teachers, or schools | 5 |
| Vision | 4 |
| Alterness, awareness | 3 |
| Attention span | 3 |
| Rolling | 3 |
| Hearing | 2 |
| Motor skills | 2 |
| Potty training | 2 |
| Using hands, grasping | 2 |
| Enjoys moving | 2 |
The most mentioned challenge to caregivers and family was, by far, balance. This included juggling work, siblings of the special needs child, marriage, family needs, and time to oneself. Finding good care, whether daycare, babysitters, respite, or nursing care was also mentioned often, as well as issues surrounding the care of heavier, larger children most often by older parents. Issues of travel (mostly local) and finances were also reported frequently. A summary of challenges mentioned by two or more families is below.
| Caregiver/Family Challenge | Number of Families Listing |
| Balance (work, siblings, marriage, self) | 29 |
| Day care, babysitters, respite | 15 |
| Care issues with heavier children or older parents | 14 |
| Travel, getting around | 13 |
| Finances | 9 |
| Dealing with seizures | 8 |
| Worries about future | 8 |
| Stress and worry | 7 |
| School advocacy | 5 |
| Bathing and personal needs care of child | 5 |
| Accomodating child's needs, medical crises | 5 |
| Child's behavior | 4 |
| Social interactions outside immediate family | 4 |
| Sadness over child's condition | 4 |
| Concerns about medical and care decisions | 4 |
| Fatigue | 3 |
| Medical insurance concerns | 3 |
| Finding time | 3 |
| Sleep deprivation | 3 |
| Finding medical support and good doctors | 2 |
| Single parenting | 2 |
| Working to keep child at home | 2 |
Having a close, committed, helpful, and supportive immediate family was the most commonly mentioned strength as a parent or family. Love for and joy from the child were mentioned second most often, and support from extended family and other external sources were third. Faith was also frequently mentioned. A summary of family or caregiver strengths mentioned by at least two families is listed below.
| Caregiver/Family Strength | Number of Families Listing |
| Committed, close, helpful immediate family | 43 |
| Love for and joy from child with Aicardi syndrome | 21 |
| Extended family support | 15 |
| Other external support | 18 |
| Faith | 10 |
| Determination | 7 |
| Positive attitude | 7 |
| Financial stability | 5 |
| Patience | 5 |
| Sense of humor | 4 |
| Joy from siblings of child with Aicardi | 4 |
| Flexible work schedules | 3 |
| Parent at home with child | 3 |
| Acceptance | 2 |
| Adaptability | 2 |
| Compassion | 2 |
The second step involved correcting for how old the child was when the skills were learned. The age at which a given milestone is attained by typical children was divided by the age at which it was attained by the respondent child in question. This ratio was averaged over all skills for which data was present, and gives an estimate of how delayed in acquiring skills the child is.
The total number of points was multiplied by this correction for
the degree of delay to attain a developmental score.
Calculating Feature Scores
Feature scores were calculated by summing the following:
| Feature | Both Eyes | One Eye | None | Unsure/No answer |
| Legally blind | 3 | 2 | 0 | 1 |
| Coloboma | 3 | 2 | 0 | 1 |
| Lacunae | 3 | 2 | 0 | 1 |
| Feature | Yes | No | Unsure/No Answer | |
| Complete ACC | 2 | 0 | 1 | |
| Polymicrogyria | 2 | 0 | 1 | |
| Hemivertibrae | 2 | 0 | 1 | |
The specific features were chosen both because they had some discrimination power, but also because these are features which can typically be assessed at the time of diagnosis.
Unanswered or unknown questions are assigned a score between
that of "yes" and "no" answers to certain features, in an attempt
to reduce the effect of questions which were left unanswered.
Only children over the age of two were included in the analysis in order to eliminate
some uncertainty in development. Many children continue to acquire the
milestones listed after the age of two, so this cutoff is not ideal, but
making it much higher reduces the statistics too significantly to be
useful.
Pearson Product Moments
Pearson product moments were calculated to measure the degree of
correlation between development and various features. Below is a table
summarizing the Pearson r values.
| Feature | Pearson's r | n | p |
| Age when problem first noted | .5 | 55 | <0.01 |
| Age at seizure onset | .45 | 47 | <0.01 |
| Legally blind | .4 | 59 | <0.01 |
| Coloboma | .29 | 55 | <0.05 |
| Chorioretinal lacunae | .33 | 72 | <0.01 |
| Microcephaly | .31 | 64 | <0.02 |
| Complete ACC | .21 | 69 | <0.10 |
| Polymicrogyria | .40 | 40 | <0.01 |
| Scoliosis | .24 | 68 | <0.05 |
| Hemivertebrae | .26 | 64 | <0.05 |
| Feature score | .5 | 64 | <0.01 |
![[graph: Bar graph showing the age distribution and frequency of individuals included in the study]](./figures/age-distribution-of-respondents.jpg){kind=link}
![[graph: Bar graph showing the age distribution and frequency of the siblings of individuals included in the study.]](./figures/age-distribution-of-siblings.jpg){kind=link}
![[graph: Bar graph showing the frequency of the number of children in the families in the study.]](./figures/family-size-dist.jpg){kind=link}
![[graph: A bar graph showing the number of ultrasounds during the pregnancies of study subjects with Aicardi syndrome.]](./figures/prenatal-ultrasound-count.jpg){kind=link}
![[graph: A pie chart showing the distribution of ultrasound results of pregnancies affected by Aicardi syndrome, defined as normal or abnormal.]](./figures/prenatal-ultrasound-abnormal.jpg){kind=link}
![[graph: A pie chart showing the distribution of common abnormalities found on ultrasound results of pregnancies affected with Aicardi syndrome. ]](./figures/prenatal-ultrasound-findings.jpg){kind=link}
![[graph: Pie chart showing the distribution of vaginal bleeding during pregnancies affected with Aicardi syndrome.]](./figures/prenatal-bleeding.jpg){kind=link}
![[graph: Pie chart showing the method of delivery of pregnancies with Aicardi syndrome. ]](./figures/birth-type.jpg){kind=link}
![[graph: Pie chart showing the combined frequency of various birth complications.]](./figures/birth-complication-rate.jpg){kind=link}
![[graph: Bar graph showing the frequency of gestational age at delivery.]](./figures/gestational-age.jpg){kind=link}
![[graph: Pie chart showing the percentage of children who needed supplemental oxygen at the time of delivery.]](./figures/newborn-oxygen.jpg){kind=link}
![[graph: Pie chart showing the percentage of newborns fed by breast, bottle, or both.]](./figures/newborn-feeding.jpg){kind=link}
![[graph: Pie chart showing how parents rated the ability of their newborns to breast-feed.]](./figures/newborn-breastfeeding.jpg){kind=link}
![[graph: Bar graph showing the age when the first sign of Aicardi syndrome was noted. ]](./figures/first-signs-age.jpg){kind=link}
![[graph: Bar graph showing teh age-at-diagnosis of Aicardi syndrome]](./figures/diagnosis-age.jpg){kind=link}
![[graph: Bar graph showing the studies used in making the diagnosis of Aicardi syndrome. ]](./figures/diagnosis-tools.jpg){kind=link}
![[graph: Line graph of average gross motor skills versus chronological age.]](./figures/dev-age-v-chron-age-gross-motor.jpg){kind=link}
![[graph: Line graph of average fine motor skills versus chronological age.]](./figures/dev-age-v-chron-age-fine-motor.jpg){kind=link}
![[graph: Line graph of average oral motor skills versus chronological age.]](./figures/dev-age-v-chron-age-oral-motor.jpg){kind=link}
![[graph: Line graph of developmental score versus age at which first symptoms were noted.]](./figures/dev-score-versus-age-first-problem.jpg){kind=link}
![[graph: Line graph of developmental score versus age at seizure onset.]](./figures/dev-score-versus-age-seizure-onset.jpg){kind=link}
![[graph: Line graph of developmental score versus feature score.]](./figures/dev-score-versus-birthonly-feature-sum.jpg){kind=link}
![[graph: Pie graph showing parents’ overall impression regarding their child’s medical condition]](./figures/medical-strength.jpg){kind=link}
![[graph: Pie graph showing parents' overall impression regarding their child's health]](./figures/general-health.jpg){kind=link}
![[graph: Bar graph showing the frequency of days spent in the hospital for acute illness during the twelve months prior to reporting.]](./figures/hospital-days-acute-illness.jpg){kind=link}
![[graph: Bar graph showing the frequency of days spent in the hospital related to surgery during the twelve months prior to reporting.]](./figures/hospital-days-surgery.jpg){kind=link}
![[graph: Line graph showing the average number of days spent in the hospital by the age of the child for both surgery and acute illness.]](./figures/avg-hospital-stays-v-age.jpg){kind=link}
![[graph: Bar graph showing the frequency of doctor visits for acute illness over the twelve months prior to reporting.]](./figures/doctor-visits-acute-illness.jpg){kind=link}
![[graph: Bar graph showing the frequency of visits to the emergency room during the twelve months prior to reporting]](./figures/er-visits-acute-illness.jpg){kind=link}
![[graph: Line graph showing the average number of doctor and emergency room visits by the age of the child in the twelve months prior to reporting.]](./figures/avg-dr-er-visits-v-age.jpg){kind=link}
![[graph: Bar graph showing the average number of days per hospitalization.]](./figures/avg-hospital-stay-duration.jpg){kind=link}
![[graph: Bar graph showing the average number of visits to the emergency room per child per year.]](./figures/er-visits-per-year.jpg){kind=link}
![[graph: Bar graph showing the percentage of children eating orally, by feeding tube, or both as a function of age.]](./figures/oral-versus-tube-pct.jpg){kind=link}
![[graph: Line graph showing the average rating of feeding success orally or by feeding tube as a function of age.]](./figures/oral-tube-feed-ratings.jpg){kind=link}
![[graph: Bar graph showing various food textures and how frequently they were tolerated.]](./figures/food-consistency.jpg){kind=link}
![[graph: Pie graph showing the frequency of dehydrations episodes.]](./figures/dehydrated.jpg){kind=link}
![[graph: A bar graph showing the frequency of ages at which a permanent feeding tube was placed.]](./figures/tube-age.jpg){kind=link}
![[graph: Bar graph showing the frequency of ages at which non-permanent feeding tubes were used.]](./figures/ng-tube-age.jpg){kind=link}
![[graph: Bar graph showing the average length of time of use of non-permanent feeding tubes.]](./figures/ng-tube-duration.jpg){kind=link}
![[graph: Pie chart showing various reasons for feeding tube placement.]](./figures/tube-reason.jpg){kind=link}
![[graph: Pie chart showing the frequency of reflux medications required after fundoplication surgery.]](./figures/meds-after-fundo.jpg){kind=link}
![[graph (frequency of cold feet)]](./figures/cold-feet.jpg){kind=link}
![[graph (frequency of warm feet)]](./figures/warm-feet.jpg){kind=link}
![[graph (frequency of cold hands)]](./figures/cold-hands.jpg){kind=link}
![[graph (frequency of warm hands)]](./figures/warm-hands.jpg){kind=link}
![[graph (frequency cold face)]](./figures/cold-face.jpg){kind=link}
![[graph (frequency of warm face)]](./figures/warm-face.jpg){kind=link}
![[graph: Pie graph showing ability to tolerate cold weather.]](./figures/cold-tolerate.jpg){kind=link}
![[graph: Pie graph showing ability to tolerate hot weather.]](./figures/warm-tolerate.jpg){kind=link}
![[graph: Pie graph showing the percentage of children requiring glasses.]](./figures/wear-glasses.jpg){kind=link}
![[graph: Pie graph showing frequency of sensitivity to noise.]](./figures/noise-sensitivity.jpg){kind=link}
![[graph: Pie graph showing frequency of repeated ear infections.]](./figures/ear-infections.jpg){kind=link}
![[graph: Pie bgraph showing frequency of ear tube placement.]](./figures/ear-tubes.jpg){kind=link}
![[graph: Bar graph showing frequency of night-time sleep duration.]](./figures/night-sleep.jpg){kind=link}
![[graph: Bar graph showing frequency of nap sleep duration.]](./figures/day-sleep.jpg){kind=link}
![[graph: Pie chart showing frequency of sleep difficulty.]](./figures/sleep-trouble.jpg){kind=link}
![[graph: Pie chart showing frequency of sleep medication use.]](./figures/sleep-med-freq.jpg){kind=link}
![[graph: Bar graph showing parent ratings of melatonin use for sleep difficulty.]](./figures/melatonin-ratings.jpg){kind=link}
![[graph: Bar graph showing parent ratings of antihistamine use for sleep difficulty.]](./figures/benadryl-ratings.jpg){kind=link}
![[graph: Pie chart showing frequency of dental visits.]](./figures/dentist-visits.jpg){kind=link}
![[graph: Pie chart showing frequency of excessive tooth decay.]](./figures/tooth-decay.jpg){kind=link}
![[graph: Pie chart showing frequency of sedation required for dental examinations.]](./figures/sedation-teeth-cleaning.jpg){kind=link}
![[graph: Pie chart showing frequency of sedation required during dental work such as fillings.]](./figures/sedation-fillings.jpg){kind=link}
![[graph: ]](./figures/grind-teeth.jpg){kind=link}
