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Hello folks. We are back with another clinical interview for you on [00:01:00] The Testing Psychologist today.
Today, I am talking with Dr. Ed Moss. Ed is a developmental neuropsychologist currently in an independent group practice in Bryn Mawr, Pennsylvania. He is the former founder and Director of Neuropsychology Services in the Department of Pediatrics at The Children’s Hospital of Philadelphia. Ed has co-authored about 40 peer-reviewed research articles and 5 book chapters, primarily in the area of the neuropsychology of genetic disorders.
We talked today about genetic disorders in general, specifically pediatric genetic disorders, and even more specifically 22q Deletion Syndrome. Ed has been working in this area for many years and is, if not the expert, then certainly one of the foremost experts in this area of practice.
And so we talk about the background and basic information around 22q; what it [00:02:00] is, some of the characteristics, some of the statistics around 22q. We talk about the practice, of course; what the assessment battery might look like, what kind of profile we are looking for, and what kind of recommendations might be helpful for kids and adults with 22q. We also talk about the role of other medical interventions with 22q, co-occurring conditions, and many other things related to this genetic disorder.
So even if you are not a neuropsychologist, this is the perspective I was coming from in a way, working in private practice and wanting to know more about a relatively common genetic concern, then this is a great episode. There’s a lot of information for even those of us who do not work in children’s hospitals or see these kids [00:03:00] super often.
A note from the editor, so to speak. There is a point during the interview where we are talking about some of the cardiac problems that tend to co-occur with 22q and Ed mentions a condition called Tetralogy of Fallot. You’ll notice I asked to talk more about that, and he was very transparent and said, I can’t say a whole lot more about it. And so I wanted to go back and add a little bit of info for those who might be wondering.
Tetralogy of Fallot is a congenital heart defect that encompasses 4 heart and blood vessel problems that are present at birth. The first is a ventricular septal defect, which is a hole in the wall between the heart’s two lower chambers. Pulmonary stenosis is a narrowing of the pulmonary valve and the main pulmonary artery. Biventricular aortal origin, which [00:04:00] is an enlarged Aortic valve that seems to open from both ventricles instead of just the left side. And right ventricular hypertrophy, which is a thickened muscle wall in the lower right chamber of the heart.
When those four things are present, it’s called Tetralogy of Fallot. It typically causes the deoxygenated blood to mix with oxygenated blood, which results in blue skin in babies. Other symptoms include difficulty breathing, poor growth, shortness of breath, and heart murmur. It’s typically discovered at birth or very shortly thereafter. There are a number of other symptoms that may go along with it, but most of these kids are followed for the rest of their lives and may undergo some surgery to try to correct some of those heart defects.
So a little bit more information on that particular topic. It [00:05:00] caught my interest and I wanted to dig in and provide a little more context for that specific concern. So when you hear that come up in the interview, think back here to the intro. Just know it’s a relatively complex congenital heart defect.
Okay. Without further ado, let’s get to this conversation on 22q with Dr. Ed Moss.
Ed, hey, welcome to the podcast.
Dr. Moss: Thanks. It’s a pleasure to be here.
Dr. Sharp: Well, I am grateful to have you. We have not talked much about genetic disorders on the podcast before. I know that you have done a ton of work in this area. So I’m looking forward to our discussion.
I will start with the question that I always start with guests, which [00:06:00] is, of all the things you could do in this field, why dedicate so much time and energy to this particular topic?
Dr. Moss: Mostly for the high pay. It’s a lot of cash, atleast for most of us in testing. You started off by saying, oh, we haven’t spent much time talking about genetic disorders. And there you go. No, one does. Pediatricians, sadly, don’t spend enough time talking about it, certainly, psychologists and neuropsychologists. Much to my surprise, and I must say dismay, it doesn’t hit the radar screen.
To be fair, I stumbled into it in 1994 when many of you [00:07:00] listeners were in 3rd grade. I was sitting in my office at the Children’s Hospital of Philadelphia when the chair of clinical genetics, whom I knew by reputation but I had never met, literally burst into my office, sat down, and said, “We’re putting in a grant for Velocardiofacial Syndrome, which is the old name for 22q deletion syndrome. We need pilot data and I need you to see 10 kids.”
She threw a publication on my desk and said, “Here’s the only paper that’s ever been written on the psychology of these kids and it’s terrible.” She sat there. I was supposed to read that paper. So I took a quick look at it, read the abstract, and said, “You’re right. This is terrible.” And she said, “I want you to see 10 kids so we can put in pilot data” because you know how it is. You can’t get a grant until you can prove that you can [00:08:00] do work and show pilot data. It’s like, when you go to the bank and you try to get a bank loan, you can only get a bank loan if you don’t need it; if you already have money.
I said, no, no, I’m very busy. I’ve never heard of this disorder. I know nothing about genetics. Sorry. And then it became clear that that was an unacceptable answer and that she wasn’t going to leave. And so, I agreed. Fine. I’ll see the 10 kids. And so I saw 10 kids with 22q deletion syndrome and I was immediately hooked because those were the days in the 1990s when NLD (Nonverbal Learning Disabilities) was an emerging big deal, thanks to Byron’s work, 7 out of the 10 kids had a very clear NLD profile and I thought, huh, there’s something to [00:09:00] this. And not only that, there’s a genetic profile that’s associated with this disorder.
And so now, 500 evaluations later, those numbers have held up. 70% of kids with 22q have a very distinct profile of cognitive, emotional, and behavioral profile. And so it is my job to evangelize the idea of behavioral phenotyping; the idea that specific genetic disorders have highly predictable behavioral phenotypes. We all do this. We’re just unaware of what it is we’re doing.
When I say Down syndrome, for [00:10:00] example, everyone gets a picture of an individual who may have shortened stature, a little heavy, lowered IQ, lowered intellectual abilities, very friendly sort of over-friendly. That’s behavioral phenotyping. And that’s a very specific… that’s Trisomy 21.
The same is true for, and I’ll keep coming back to 22q deletion syndrome because that’s my narrow subspecialty in genetics. I do not consider myself an expert in genetics, just sort of in a corner of the field. But here, Down syndrome is about 1 out of 500 but 22q deletion syndrome is the number two [00:11:00] genetic cause of cardiac anomalies, very specific cardiac anomalies, and it’s 1 in 1200. The current data, which was out of Ottawa, where they finally tested all newborns for a year or two, is 1 in every 1200, which is really common.
So what used to be thought of as this rare genetic disorder is rare only because everyone misses it. In fact, it’s probably more common than 1 in 1200 because when they looked at tissue samples of spontaneously aborted fetuses, it’s 1 in 900. So, 1 in 1200 live births. That means in every school district, even small school districts, you’re going to have a kid or two with 22q.
I gave a lecture in a school district in [00:12:00] California at the request of a family of a boy with 22q and I spoke to the whole special education staff. I did an in-service and I saw several of those staff looking at each other at one point as I was describing the features and the cognitive profile. And sure enough, based on that, two other kids in the district were detected and turned out to have 22q.
When I speak with school psychologists, school counselors, social workers, and school nurses, school nurses are on frontline, when I tell them, look, these kids tend to be sicker than kids in the general population, so they have all kinds of… they have aches and pains that are very predictable, but they also are prone to… they [00:13:00] wind up in the nurse’s office a lot more than kids without 22q. So, if you see a kid who seems to be ill a lot, they’ve reduced immune function, often with low T cell counts. So they catch everything.
Again, this is not true for all kids with 22q but a majority of kids with 22q get sick a lot. They have small eustachian tubes, they have chronic ear infections. Almost all of them wind up getting ear tubes placed. So there are certain predictable physical patterns. There are also physical facial features, just like again, when I mentioned Down syndrome, there are very specific facial features associated with Down syndrome.
There are also facial features associated with 22q. You have epicanthal over folding, which means hooded, almost [00:14:00] Asian-looking eyes. A long nose with a little ball at the tip, kind of a bulbous tip, unusual patterns of ears, like folded helices, the top part of the ear. There are a lot of little things. When they come and see a geneticist they go through anthropometric measurements. They take out their measuring tapes and do all that stuff. There’s something like… they do their 26 measurements, lots of things pop up.
You can read all about it. Our new book just came out from the Department of Genetics at Children’s Hospital of Philadelphia, edited by Donna McDonald McGinn, who is the director of the 22q and You Center at the Children’s Hospital of Philadelphia, who I would argue has single-handedly put 22q deletion syndrome on the international map. She is [00:15:00] relentless in her advocacy. I don’t think she has slept for 20 years. She is everywhere all at once.
Dr. Sharp: I’m one of those personalities.
Dr. Moss: She is a Saint and an incredible advocate. Thanks to her, there are centers of excellence all around the world. When I first started with this, Children’s Hospital became the Center for 22q deletion syndrome. And now, fortunately, there are multiple centers around the country and now multiple in many countries. The international recognition has grown tremendously.
Dr. Sharp: Sure. Well, I think that’s remarkable. I remember seeing a kid with 22q maybe seven years ago, something like that. Even then, [00:16:00] I couldn’t find a ton of research on it. I dug around as best I could. There was some good stuff certainly, but it wasn’t as much as I might’ve expected, especially in the practical sense. And so, it sounds like there’s been a lot of work over the years to bring more awareness to it, and it’s just accelerating. A book is legitimate. That means it’s […]
Dr. Moss: The book is meant for clinicians. You can get it on Amazon. But we know that parents will be buying it. Parents are increasingly sophisticated in asking questions.
One of the concerns, let me back up by saying that, one of the bedeviling features of 22q is that there’s huge [00:17:00] heterogeneity in the presentation. So there are lots of things to look for. Many children will have overlapping features. They’ll have cardiac issues, speech issues, and borderline IQ is the mean for the group, but 20% of average IQs. It never goes above average. Again, 500 evaluations, I’ve never seen a score over 100 and something. Mathematical learning disabilities are a hallmark of the disorder, but not all kids have it. Heterogeneity is another thing that throws people off and generally under-recognized.
One of the reasons why you weren’t able to find a lot of publications even in 2007 is that a lot of the publications wind up in the medical journals, and not enough that wind up in the neuropsychological [00:18:00] journals, although there have been a few special issues over the years in I think child neuropsychology. Fortunately, it’s increased recognition but I’ve also been surprised that I don’t know if I find it so fascinating that I’m surprised that everyone doesn’t find it fascinating. I want to spend a lot of time on it. I’ve been fortunate because I’ve been in the teaching role to expose lots of trainees to the concept, and then to the broader concept of thinking about genetic disorders.
When you see a child who has an unusual, and especially a refractory learning disability often with emotional overlays, we all think about family histories when we take our family histories, but [00:19:00] pay a little more attention to the presence or absence of genetic disorders in the family. It doesn’t apply to 22q because 90% of individuals with 22q deletion syndrome have de novo deletions, which means it’s not in the family. And that’s actually a good thing. It’s just a weak point on the chromosome that winds up copying itself too many times. So you get a deletion.
But when it is familial because if you have the disorder and you reproduce your offspring, you have a 50% chance of having the disorder, and so, it’s a coin toss every time you have a child if you have the deletion. The outcome there for those children is [00:20:00] worse in the sense that they tend to be more strongly affected cognitively and behaviorally. Some of that might be environmental in that you have parents with disabilities raising children with disabilities. So just like in ADHD, that accounts for part of it, but it may be that somehow the offspring have it harder and stronger.
Dr. Sharp: Right.
Dr. Moss: Not a very good explanation, but it tends to be worse and they need much more support outside support from family and social services during child-rearing. And so those kids, they’re really at much higher risk.
Dr. Sharp: Yes. Well, I want to talk about… At some point, I definitely want to talk [00:21:00] about support and treatment and what that might look like. I wonder if we could back up slightly. I’d love to hear more of the full profile of 22q kids. We hit on a few things, but any other characteristics that we should be aware of either cognitively or behaviorally that we want to get on the table to paint the picture for the rest of the conversation?
Dr. Moss: Absolutely. These are some of the things to look for. 70% of the kids are born with a cardiac defect, usually ASD or VSD or both(So atrial septal defect or ventral septal defect) which often I think in most cases does not require surgery. It just requires monitoring. Tetralogy of Fallot is another common cardiac defect that does require surgery.
Dr. Sharp: For [00:22:00] anybody who may not know what that is, can you do a brief explanation?
Dr. Moss: Nope.
Dr. Sharp: Fair enough. Okay. I had to ask. That’s all right.
Dr. Moss: Let me in the bigger picture say that parents spend the first 0 to 4 years or so very worried. Most parents of kids with 22q worry that their kids will die because 70% have cardiac defects, 30% don’t. But then 70%, and it’s a different 70% though it overlaps, have an incomplete soft palate. There’s nasal regurgitation, they throw up through their nose. That’s a big tip off by the way of 22q. Milk comes out of their nose because their palate isn’t closed.
And so they have feeding problems. Overwhelmingly [00:23:00] these kids have feeding problems. And then they have delayed speech. Some of them don’t speak until they’re 3 or 4. When they do speak, there’s their speech is very hyper-nasal. Their speech can be very difficult to understand.
Fortunately, the palate repair can be done. You have to wait till a certain age. And then speech just takes off for a number of these kids. I’ve heard this story from parents over and over. They always use the same tone, the damn burst and suddenly there’s language all over the place. And there’s a lot of catch-up that happens. So do teach them sign language because sign language helps as a bridge just with all language-delayed kids. And then as they get more and more language, the sign start disappearing and they don’t need them. So language delays are common.
They’re sick all the time. Every winter, they’re sick all winter [00:24:00] because as I mentioned before, they have immune problems. When they come to Children’s Hospital, kids come from all over the country and sometimes all over the world, they see something like 17 subspecialty subspecialists. As the kids age, scoliosis is very common- significant scoliosis. The kids tend to be short in stature. They tend to be below the 1st percentile for height and weight. Feeding problems are common.
And so parents are dealing with all of this. And then they finally get out of the woods and the kids are healthy and seem to be thriving. The majority wind up getting some early intervention services, finding gross motor problems because they’re born with low muscle tone.
[00:25:00] Finally, the kids are about 4 or 5 and they’re over these big life-threatening humps, they’ve gone through early intervention, they’re like, okay, now school starts. And then, bam, they start hearing from the preschool teachers about learning delays and concerns about intellectual development and possibly behavioral concerns.I’m jumping ahead, but ultimately 50% of kids with 22q will develop ADHD, and they’ll meet, I’m pretty strict in my classification of ADHD. I was fortunate while at CHOP for a decade to be next door to the ADHD program. 60% will meet the criteria for anxiety disorders. A lot of social anxiety [00:26:00] but that sticks.
Again, if you just have ADHD in the general population without a genetic disorder, the co-occurring internalizing disorders usually anxiety, are quite high, so it is not surprising our kids with 22q have even higher levels of anxiety. And just as in the general population where females have higher rates of anxiety than males, it’s true for our females with 22q syndromes.
Dr. Sharp: Do we know if social anxiety is tied to nonverbal weaknesses at all? I’ve seen a connection between those sometimes.
Dr. Moss: Well, I think so, but there’s so much controversy about NLD. I used to put it in all my reports. I find that it has a lot of heuristic value in that it pulls together a story quite nicely that parents get.[00:27:00] But I must say, as a scientist, the data isn’t there supporting them, and it hasn’t made it into DSM. So it doesn’t buy the kids anything to put it in reports. So, I’ll sometimes have a paragraph in reports explaining what NLD is and why this fits the profile, but I won’t use it as an actual diagnosis. But they wind up…
Yes, they meet all the criteria. You see overwhelmingly, again, 70% have higher verbal than nonverbal IQ scores by more than 10 points. I think my winner is a 67-point split or something like that. Some are normal. As a kid with above-average [00:28:00] verbal IQ, and then intellectually deficient, nonverbal skills.
We have a pretty good sense of why that is. The deletion affects brain development in the 1st trimester of pregnancy in terms of embryonic brain development and so for two decades now, we’ve known through anatomic imaging studies, but also pev studies, some great work that was done by Carrie Bearden at UCLA, who was my postdoc. I introduced her to 22q and now she’s a big deal with a lot of NIH. She found what we predicted which is the thinning of the cortex in varietal occipital junctures. [00:29:00] Guess where you do math? Right there. And that’s also where you do block design and also all kinds of visual-spatial stuff.
Other sites have shown that in children with 22q, their brains are about 11% smaller although there are regional differences. So, the frontal lobes are unaffected interestingly, but when you think of what’s feeding to the frontal lobes, that’s deficient. So they wind up looking like they have executive dysfunction. Even though the hardware is there, the inputs are not coming in appropriately.
I mentioned that 50% ADHD, 60% anxiety disorder, and then unfortunately up to 20% or so will develop psychosis in young adulthood at the same age as schizophrenia risk. [00:30:00] So 16 to 22 they’ll develop psychosis. A lot of negative symptoms, but some with positive symptoms as well, not so much hallucinations, but delusions are not uncommon.
Dr. Sharp: Do we have any idea of the mechanism behind that?
Dr. Moss: There’s a lot of work going on looking at that specifically. That’s become a real focus. The NIMH has given the research group lots of money to answer that question specifically because here we’ve stumbled on a gene for schizophrenia, but there is no gene for schizophrenia. It’s multifactorial and multi-gene genetic. But clearly, the 22nd chromosome has a role because the deletion in the 22nd chromosome is what’s called a haploid deletion.
It’s only one side, so you do have one chromosome 22. And [00:31:00] it’s a very specific location, 22q11.2. So there are about 40 genes in that region that are deleted. So we’re looking hard. The molecular geneticists, this is a real bench-to-bedside kind of program. We support the kids and their families at the same time that the bench scientists are trying to figure out what’s happening at a molecular genetic level.
So it’s very exciting, but as it relates to schizophrenia, in the big picture, around the world, 0.9% of the population, let’s call it 1% of the population; let’s say 1 out of every 110 people meets the criteria for schizophrenia. That is enormous. That’s a big number.
And so the costs, let’s just take the [00:32:00] American economy, the costs of schizophrenia are over $300 billion annually in terms of care for individuals with schizophrenia but also lost productivity, housing, everything. It’s probably more than that. That’s a number that I knew from several years ago. Everything’s gone up. So let’s call it $500 billion.
Dr. Sharp: That’s remarkable.
Dr. Moss: That’s why the NIMH has been very interested in funding schizophrenia work for a long time because it’s a big problem. Things have gotten much better in terms of medications, treatment, and interventions.
For example, I read a study about MBSR: Mindfulness-Based Stress Reduction amongst individuals with schizophrenia and it works. [00:33:00] There are new models for cognitive behavior therapy for individuals with schizophrenia. So there’s hope in things are getting better, but it’s still a terrible disorder because so many individuals with schizophrenia, it seems to come out of nowhere. It seems like kids were doing okay in school, they’re chugging along, and then somewhere late in high school, things change. They start becoming isolated and you start seeing the first signs.
It’s very interesting. Studies were done where the emergence of video cameras in the 1980s, that was where everybody was watching the videotaping their kids. Researchers have gone back and looked at the videotapes and had [00:34:00] raters blind code the videotapes of children who went on to have schizophrenia and siblings or neighbors’ kids who didn’t and they’re actually behavioral differences from an early age. They’re just very subtle.
Dr. Sharp: That’s remarkable.
Dr. Moss: They’ll be the one standing off to the side at kids birthday parties. They rate them on a number of factors like social engagement and stuff like that. And there are subtle differences that you can pick up in retrospect, but […]. Now that that number of 20% has gotten out in publications, parents who actually do read, we have many parents who read the [00:35:00] literature, they’re terrified and it’s understandable.
So we’re trying to figure out prospectively now, which kids are at increased risk for developing the disorder. We have some hints, but there are no, because some kids were, I feel like, oh, red flags, all kinds of behavioral disturbance and that kind of stuff. Now, I’ve been seeing these kids since the 90s and they got better or they remain the same and they did not develop schizophrenia.
At Children’s Hospital, I’m also a little suspicious of that number of 20% because, at Children’s Hospital, they now follow 1800 families of kids with 22Qq since they started in the 90s. In fact, 20% ultimately became schizophrenic. You have, what, 450 individuals with [00:36:00] schizophrenia. And we don’t. Now, obviously, a lot of families are lost follow up and we don’t hear from them, but you tend to hear from the families where things are not going well. You don’t hear from people when things are fine. No, news is good news. But families reach out when they’re freaking out and when they want help and are seeking support. And so we have a handful of kids who’ve gone on to develop schizophrenia.
I say this to parents because the numbers 20% tend to come out of adult psychiatric centers where they’ve seen hundreds of individuals with 22q who wind up in their center but which adults are the ones that are likely to wind up in getting support at some kind of center? The ones who are struggling.
So, I just feel like the numbers are [00:37:00] from a prospective point of view, that ultimately will find out that it’s much lower, but it is real. I’ve had kids that I’ve known for years and evaluated on multiple occasions, I’ve watched them become schizophrenic and it’s tragic and the damage. They suffer and their families suffer in finding school programs, et cetera. Finding appropriate psychiatric and psychological support and medications is a real challenge.
Dr. Sharp: Yeah. Well, we’re talking about adults and maybe longer-term prognosis. Is there anything else to say there as far as, I hate to think about reduced mortality, but that’s always a question with genetic concerns. Any other long-term or adult implications for those with 22q?
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All right. Let’s get back to the podcast.
Dr. Moss: Yes. Actually, mortality is not that different from the general population except for the ones who were born with significant mechanical cardiac issues. [00:40:00] And that’s no different from folks without 22q who have the same cardiac issues. They tend to have shorter lifespans.
Dr. Sharp: Makes sense.
Dr. Moss: One of the big things associated with 22q that I only started focusing on last decade or so is fatigue. They have physical and cognitive fatigue. By 2 or 3 in the afternoon, these folks are out of gas. I used to joke that from the descriptions of parents and what I would see in my office, these kids are fatigued at a cellular level. They’re just toast. And then wouldn’t you know it?
More recent research has shown that in the mitochondria, which we all recall is [00:41:00] from 9th-grade biology, the powerhouse of the cell, they have reduced ATP. So, there is less gas in the tank for every cell. So, that winds up having… I write that in reports because kids just get tired. Many of these kids, even in high school, go home and nap after school because they’re just worn out.
Dr. Sharp: That makes sense.
Dr. Moss: But if you have a job, let’s say you have an IQ, the mean IQ for the group is about 76. So what jobs are going to be available? Well, a lot of jobs require physical labor but these folks wear out by afternoon. So it’s very difficult to hold full-time employment. And so that affects [00:42:00] job choices and that kind of stuff. No socialization because tend to be wiped out when it’s nighttime and most people get to socialize.
In the last, I don’t know, 15 to 20 years, let’s call it 15 years, I’ve been getting more and more calls from parents of kids that I saw when they were kids and now they’ve become young adults.
Once again, if I had a nickel for every parent that said, as soon as they left a children’s hospital setting, care vanished, there’s not a lot of good adult care, [00:43:00] but also when they left school, the follow-ups weren’t there.
When I lecture about this, the title of my lecture is When the IEP ends. In many ways that applies to all young adults with developmental disabilities. When the IEP ends and that structure goes away, they’ve been somewhere from 8:30 to 3.00 PM for 18 years, in many cases, 21 years, and then and then that gets pulled away.
Dr. Sharp: It’s a huge problem. We talk about that in our community and nationally, of course, but I’m right with you.
Dr. Moss: We do a terrible job. I had the good fortune to give a lecture about this. Our international 22q society has a biannual meeting somewhere in the world every 2 years. The last meeting was in Croatia. [00:44:00] And if you haven’t been to Croatia, you should go there. It is really cool. It’s a wonderful place. It’s beautiful. The Croatian people are very nice and they all speak English. And so we had a great conference.
When I lecture about resources in the United States, there’s a lot of data and I thought, oh, I’m going to be lecturing to an international community in Croatia with clinicians and scientists from all over the world. And so, telling them about resources in the United States, that’s not very helpful. So I started doing some research and in the United States,1 in every 5 school children, 20% of children in the United States have an IEP.
Now that’s all comers. So that’s children who have no legs or [00:45:00] wheelchair-bound or children who are blind or children who are deaf, but 50% of IEPs are for learning and attention disorders, usually learning disorders, and overwhelmingly it’s for reading disorders.
I must say, that was one of the things that really hooked me into working with kids with 22q because they crack the code of phonemic processing and site word reading very early on. They do remarkably in the first 3 to 4 years of schooling. They’re great site word readers and yet many of them cannot do simple math calculations and never learn the time. So, math never becomes automatic. They never get the automaticity that you need to move up in math.
[00:46:00] I thought, wow, the most common learning disability in the United States is a reading disability, but these kids have the reverse. They read very well. That tends to decline around 4th grade or so when reading comprehension becomes more to the 4 and since the majority of kids have intellectual limitations, that winds up affecting their reading comprehension. So their ability to understand why the characters are doing what they’re doing. They can’t infer very well. But anyway, that’s one of the things that got me even more interested in 22q early on was that somehow they had cracked this code.So, back to adults with disabilities, it’s not that different from a lot of what we see with [00:47:00] adults with other sorts of disabilities. They need some level of assisted housing, some level of assisted employment, and in other countries, the numbers for learning disabilities, even looking at our nearest international neighbor Germany, in terms of financial resources and attention and that sort of stuff, their number of kids who are labeled for special needs is 5%.
Dr. Sharp: Interesting.
Dr. Moss: But in the big picture, if you are a German student, only 30% of German students go to college because their whole life is geared toward this high school test, the Gymnasium, that determines the rest of their career. The same is true in Japan [00:48:00] and France. So 70% who don’t go to college are overwhelmed when they go to skilled trades. So, you’ll get a great job at BMW doing something where you can own a home, have children, have a family, and all that stuff. And that’s where I feel that we have let down the disabled population in the United States.
There isn’t the appreciation, I would say, for skilled trades that I think we really should have. I am a huge fan of skilled trades. I talked to my age-fat guy about it all the time. When he comes to repair things, I say, Paul, why don’t you have an apprentice with you? He said, I can’t find him. It goes both ways. He said [00:49:00] “Nobody wants to get dirty anymore. Everybody wants to work with computers.” And he said, “Nobody wants to be crawling through your ceiling.”
Dr. Sharp: It’s understandable.
Dr. Moss: Well, it is, but there’s an honor to skill trades. Certainly, these days, if you see what electricians and plumbers charge per hour, it’s real money. I’m also somewhat enviable because I can’t do anything. I suck. I blew a fuse in my car two years ago, the dashboard lights went out, I tracked it down and figured out, Oh, it’s a blown fuse. And I replaced the fuse. I felt like MacGyver.
Dr. Sharp: Right. I’ve had a few of those moments over the years as well where some stroke of brilliance allowed me to do something.
Dr. Moss: Right. But anyone who knew anything about cars would look at me like, what did that take you? Like five minutes? No, it took me about an hour.
Dr. Sharp: Right. This [00:50:00] is baby stuff. That’s a whole other can of worms to open. I will say just briefly, that I totally agree with you. I feel like we’ve really undervalued trades in general and the overvaluing of going to college. A lot of kids end up there and then don’t know what they want to do and waste a bunch of money and time and any number of other things, but that’s relevant for this population as well, where they may need to be introduced and exposed to career opportunities that are more hands-on or rote, whatever you might want to call it.
I wonder if we might pivot to the practice a little bit more. I’d love to talk about specifically the neuropsychological side of this. What does the battery look like? What does testing look like when these kids come to your office?
Dr. Moss: Well, I’m old school. [00:51:00] The people who trained me trained in Boston. I went to City College in New York, the first neuropsychology program in the United States. I mean, I wasn’t there when it was the first, I wasn’t the first neuropsychologist there, but not long after. It opened in 1976 and I entered the program in 1982. It was luck because I’m a New Yorker, the program was in New York, and it was started by folks who had drifted down from Boston, who had trained in Boston; New Yorkers who were trained in Boston and came back home.
When I first started working with kids with 22q, I dumped the filing cabinet on them because we needed to learn what their strengths and weaknesses were. So I still use that approach. All the kids must have a psychoeducational battery because if our reports are going to be useful at all in school, then we have to speak the language of school psychologists. I’ve [00:52:00] also been fortunate to have trained, I’m not school-certified, but I’ve trained many interns and postdocs who are school-certified. And so I’ve gotten lots of training from them about what happens in schools and I’ve worked with schools.
It’s interesting. When I was full-time at CHOP for 10 years, I would say that I probably went to 5 IEP meetings in 10 years. Now I go to all of them. Zoom helps. We see kids from all over the country. I can attend a Zoom meeting in Montana. When they’re within an hour and a half of my office, I drive there because it’s one thing to be in on a Zoom meeting, it’s another thing to sit in the room with the IEP team and the parents and folks making decisions.
I always make it very clear to the team that I’m not there, and I make it clear early [00:53:00] on when I’m first getting to know the school team or the people who’ve referred the child for, let’s say an IE, that I’m not here to be adversarial. I’m here to join the team and there’s a piece that I know that might be helpful. And so, the teachers, my wife is a recently retired elementary school teacher, teachers are the masters of their craft. I do this thing and the school psychologist to the other thing. So, let’s bring it all together.
Dr. Sharp: I like that.
Dr. Moss: That has made a huge difference by attending these meetings. I feel like my reports don’t sit in a filing cabinet. I’ve also over the years learned to refine my recommendations with the help of my wife. Many of her friends are teachers. I would ask for feedback, “Is this something teachers can do? Is this something that teachers would do? Is this [00:54:00] something…?
“Sit in front of the room” still pops up in every report that I see from other psychologists and teachers are like, often there is no front of the room. I know in my wife’s classroom. She had 3 walls of boards and she was constantly in motion so that kids all around the room would have the benefit of being taught. So there was never a kid in the back of the room. So we need to get that out of reports and tell the kid to go sit near the teacher.
So, that was helpful. Speaking with teachers and school psychologists and being very open and frank about, is this doable is very helpful. And then beyond that, I recommend evidence-based interventions. I try to stay up on literature and [00:55:00] effective interventions for math disabilities, and learning disabilities.
I must say, the University of Florida is what works. The clearinghouse is very helpful. If the school says, oh, we use this program, I can just look it up and see what the data is for that reading program, that math program, or that writing program.
Dr. Sharp: This is such a great resource.
Dr. Moss: And then also, because I came out of my first 5 years in Philadelphia in the Department of Psychiatry at HUP, at the Hospital University of Pennsylvania, I can make, I think useful recommendations about the kinds of therapeutic interventions that the child is going to need and try to integrate that into the school setting and try to put together a package for what these complex kids need.
As with all [00:56:00] children with disabilities, that changes. So the kids’ needs change over time as academic demands escalate and higher grades and social skills, the subtleties of social skills change. And these are kids with developmental language delays.
Having a son and a daughter myself, it’s very interesting, with my son when he was a boy, if there were a bunch of boys, I hate to use these stereotypes, but they turned out to be true. I could throw a ball into the group and they’re good to go. They’ll chase it like Labradors. But with my daughter, if she was with a few friends, it was much more fantasy play, much more language-based and fast-paced.
We know developmentally that females have better language [00:57:00] skills than males. They develop them faster and they’re and they’re better at them. The kids with 22q, especially females have a language delay. So, when a group of girls are talking on their rapid shift changes, if someone says something, and the child with 22q has a thought, first it takes her a half 2nd longer to process what’s been said, and then to formulate a response and then to utter that response. Well, now it’s 3 topics ago. So everyone has to stop back up and say, yes. So, it changes the whole dynamic and you look weird and it’s embarrassing.
So kids with 22q tend to do better with younger kids because they can be more in control and you know how it is, when you’re a kid, you’d always want to play with the older kids and your older cousins and all that stuff. [00:58:00] So the younger kids are happy to have an older kid who wants to play with them but they’re often at the same developmental level and the same language level. And so they can have more control over the pacing of conversation. So, socially, there’s some adjustment that needs to be done.
I’m sorry, I wandered off task on that one.
Dr. Sharp: No, there’s so much good information to talk through in this area. I want to double back to the battery just to make sure that I’m clear on that. It sounds like you do a pretty comprehensive battery. You mentioned doing academic testing as a matter of course. I’m guessing all the others… you hit the high points: IQ, academic, executive functioning, memory learning. Is there anything else in the battery? I mean, how much emotional and personality assessment is in there?
Dr. Moss: Well, fine motor speed and dexterity actually, [00:59:00] because, again, they have low tone. So overwhelmingly they have fine motor issues. I use the Purdue because I feel it’s better normed than the Grooved even though the Grooved is probably a better test because you’ve got that twisting thing.
These kids overwhelmingly have writing problems for a number of reasons. They have language problems. So they’re trying to bring together weak language skills and weak motor skills. And so writing is a disaster. It makes for a good argument for increased OT.
You talked about mood and behavior; standard BASC and BRIEF. I like the PAI-A. That is validity. [01:00:00] The PAI- A in adults, I tend to prefer a little over the MMPI. I will state very flatly that I’m not at all an expert in personality testing but the PAI tends to take physical and somatic complaints more into account and pay more attention to that than, in my experience, the MMPI does, although the new, I don’t know what version of the MMPI we’re up to, but that’s probably since been corrected.
Dr. Sharp: I’m not a big MMPI user either. We’re on the 3 for what it’s worth, but I don’t use it all a lot either. We’re PAI, MCMI people in our practice.
Dr. Moss: I don’t do projective tests. I haven’t been trained in projective testing. I have [01:01:00] passing knowledge of it. Not in any way to denigrate it but it’s not in my battery.
Dr. Sharp: Fair enough. You touched on recommendations a bit and it sounds like a lot of that is happening in the school. I’m curious about the ongoing medical support that might be relevant for these kiddos. Are most of them followed by cardiologists or, I’m not sure if it’s osteopathic or orthopedic folks for the scoliosis that you mentioned? What do the medical support and recommendations typically look like for these kiddos?
Dr. Moss: It’s so hard for the families that I see that don’t live near university hospital settings where you have specialties in one place. If you have a kid in Omaha, [01:02:00] I have, in fact, have a kid, it’s like a 6-hour drive in each direction to find the person for this and the person for that. That’s why we need more centers of excellence, especially in pediatric medical centers.
Although I must say it’s the adult follow-up is lagging. The number of specialists for adults with 22q is very low. And so I urge people to get their treatment in as early as they can if they find a place. We try to do as much connection. I can’t speak, well, I think I can speak a little bit for some of the other team members at at Children’s Hospital. They try to keep open connections with other specialists all over the [01:03:00] country. We have referral networks so that the kids, adolescents, and young adults get the care that they need. This is complex.
Dr. Sharp: That’s fantastic.
Dr. Moss: And partly because, again, it’s so heterogeneous. They’ll need different care from different… Each individual has their own profile.
Dr. Sharp: Sure. I wonder if we might start to close almost back at the beginning, I’m thinking about, most of us are not in children’s hospitals with extensive treatment teams, research teams, funding, et cetera to focus on these kiddos. But like I said, I saw a kid 6 or 7 years ago who had already been diagnosed and identified. For those of us in private [01:04:00] practice, we’re starting the eval, we are interviewing the parents. What things do we need to look for? Do we need to be asking about almost in a screening capacity to make sure that we may not miss any of these kiddos who haven’t been identified at that point?
Dr. Moss: It can be tricky. One is some of the physical features that I mentioned and a shameless promotion, that’s all listed in the book. Again, if you see a child who has, and it may not be 22q, but for any genetic disorder, if you see a child who has some unusual physical attributes or unusual facial features, and has an atypical kind of [01:05:00] a learning disability, or refractory, a kid who’s got learning issues that seem to be refractory to intervention and maybe has a borderline accused is a big tip-off. It’s something to think about.
Years ago, I had a teenager, a delightful young lady come into my office for a routine learning disabilities evaluation and there was 5 flags that went up for me of like, oh, I think this young lady has a genetic syndrome. During the feedback, I mentioned, and I put in my report, “Consider evaluation by a clinical geneticist because of this feature and that feature.” And the educated parents said, absolutely not.
Genetics [01:06:00] is a touchy subject. It’s hard especially if you’re not a geneticist. For some reason, I think physicians can get away with it, get away is the wrong term, and at that. Physicians have more face validity, shall we say, in recommending an evaluation by geneticists than just some Joe neuropsychologist they brought in because the kids are slow readers. It’s something to discuss with the school team. If you have a good relationship with parents, there’s nothing to be lost by having a genetic evaluation.
And I’ll say conservatively, odds are, this will come to nothing. The same way that I recommend if something feels uncomfortable in the office, and I think the child should see a neurologist, or if the data suggests that there’s something going on that’s more than what we thought, [01:07:00] I soft pedal it and say, just to rule it out. It’s probably come to nothing, but I suggest you see, here are the names of 3 pediatric neurologists. It’s not urgent but before she goes off to college or before starting high school, let’s rule this out. And you never know. I picked up ESES in a 10-year-old boy the same way, which is an epilepsy of sleep. Just take a good history, listen carefully and you never know what will come out of that.
Dr. Sharp: That’s fair. I appreciate you coming on and talking through this. Man, you’ve been living in this world for a long time and there’s a lot of knowledge to share on a relatively obscure topic. I wish I’d done this interview [01:08:00] 8 years ago before I saw this family. It’ll certainly come in handy for the next kiddo that comes through the office. I will make sure to put a link to the book in the show notes for folks who want to check that out and learn a little bit more about 22q.
I would imagine there are some folks listening who may want to consult or talk with you at some point about this area or expertise. If you’re open to that, is there a way for folks to get in touch with you?
Dr. Moss: My communication doors are always open. Thanks to Dr Steve Hughes who founded the pediatric neuropsychology listserv, I have an early Gmail address, Kid Brains. So kidbrains@gmail.com. Send me an email or give me a call. I think you can provide my number. [01:09:00] I am happy to evangelize for this disorder. Probably the fact that there are so few psychologists and neuropsychologists who have taken this on has made me more passionate about it because I feel like I need to spread the word while I can. Fortunately, I’m working with somebody who’s going to be my successor in my office who is starting to take over the 22q population. She is highly skilled and she’s ABAP and I’m not so she’s really terrific. So I feel I’ll eventually be leaving the practice in good hands.
Dr. Sharp: That’s a nice note to end on. Yes. Well, thank you again. I really appreciate it. I hope everybody has found this helpful.
Dr. Moss: Thanks a lot.
Dr. Sharp: All right, y’all. Thank you so much for tuning into this episode. Always grateful [01:10:00] to have you here. I hope that you take away some information that you can implement in your practice and your life. Any resources that we mentioned during the episode will be listed in the show notes. So make sure to check those out.
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